The Application of Clinical Genetics最新文献

{"title":"The Importance of Small Non-Coding RNAs in Human Reproduction: A Review Article.","authors":"Behnam Kamalidehghan,&nbsp;Mohsen Habibi,&nbsp;Sara S Afjeh,&nbsp;Maryam Shoai,&nbsp;Saeideh Alidoost,&nbsp;Rouzbeh Almasi Ghale,&nbsp;Nahal Eshghifar,&nbsp;Farkhondeh Pouresmaeili","doi":"10.2147/TACG.S207491","DOIUrl":"https://doi.org/10.2147/TACG.S207491","url":null,"abstract":"<p><strong>Background: </strong>MicroRNAs (miRNA) play a key role in the regulation of gene expression through the translational suppression and control of post-transcriptional modifications.</p><p><strong>Aim: </strong>Previous studies demonstrated that miRNAs conduct the pathways involved in human reproduction including maintenance of primordial germ cells (PGCs), spermatogenesis, oocyte maturation, folliculogenesis and corpus luteum function. The association of miRNA expression with infertility, polycystic ovary syndrome (PCOS), premature ovarian failure (POF), and repeated implantation failure (RIF) was previously revealed. Furthermore, there are evidences of the importance of miRNAs in embryonic development and implantation. Piwi-interacting RNAs (piRNAs) and miRNAs play an important role in the post-transcriptional regulatory processes of germ cells. Indeed, the investigation of small RNAs including miRNAs and piRNAs increase our understanding of the mechanisms involved in fertility. In this review, the current knowledge of microRNAs in embryogenesis and fertility is discussed.</p><p><strong>Conclusion: </strong>Further research is necessary to provide new insights into the application of small RNAs in the diagnosis and therapeutic approaches to infertility.</p>","PeriodicalId":506374,"journal":{"name":"The Application of Clinical Genetics","volume":"13 ","pages":"1-11"},"PeriodicalIF":3.1,"publicationDate":"2020-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2147/TACG.S207491","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37611309","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sjogren-Larsson Syndrome: Mechanisms and Management.","authors":"Parayil Sankaran Bindu","doi":"10.2147/TACG.S193969","DOIUrl":"https://doi.org/10.2147/TACG.S193969","url":null,"abstract":"<p><p>Sjogren Larsson syndrome (SLS) is a rare autosomal recessive inborn error of lipid metabolism due to mutations in the <i>ALDH3A2</i> that result in a deficiency of fatty aldehyde dehydrogenase (FALDH). The syndrome has a high prevalence in Sweden where it was first described, but now known to occur worldwide. The classical triad of ichthyosis, mental retardation and spasticity characterizes clinical features. Preterm birth is common. \"Glistening white dots\" in the retina is a pathognomic clinical feature. Magnetic resonance imaging of the brain demonstrates leukoencephalopathy predominant in the periventricular region. Cerebral MR spectroscopy reveals a characteristic abnormal lipid peak at 1.3ppm and a small peak at 0.9ppm. The primary role of FALDH is oxidation of medium and long-chain aliphatic aldehydes derived from fatty alcohol, phytanic acid, ether glycerolipids and sphingolipids. The diagnosis is based on the typical phenotype, demonstration of the enzyme deficiency and presence of biallelic mutations in the <i>ALDH3A2</i>. The management of SLS largely remains symptomatic currently. However, several potential therapeutic options are being developed, keeping in view of the fundamental metabolic defects or correcting the genetic defect. This review aims to summarize the clinical, genetic and biochemical findings, pathogenetic mechanisms and the current therapeutic options, in SLS.</p>","PeriodicalId":506374,"journal":{"name":"The Application of Clinical Genetics","volume":"13 ","pages":"13-24"},"PeriodicalIF":3.1,"publicationDate":"2020-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2147/TACG.S193969","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37611310","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Spotlight on Warsaw Breakage Syndrome.","authors":"Francesca M Pisani","doi":"10.2147/TACG.S186476","DOIUrl":"https://doi.org/10.2147/TACG.S186476","url":null,"abstract":"<p><p>Warsaw breakage syndrome (WABS) is a very rare recessive hereditary disease caused by mutations in the gene coding for the DNA helicase DDX11, involved in genome stability maintenance and sister cohesion establishment. Typical clinical features observed in WABS patients include growth retardation, facial dysmorphia, microcephaly, hearing loss due to cochlear malformations and, at cytological level, sister chromatid cohesion defects. Molecular bases of WABS have not yet been elucidated, due to lack of disease animal model systems and limited knowledge of the DDX11 physiological functions. However, WABS is considered to belong to the group of cohesinopathies, genetic disorders due to mutations of subunits or regulators of cohesin, the protein complex responsible for tethering sister chromatids from the time of their synthesis till they separate in mitosis. Recent evidences suggest that cohesin and its regulators have additional key roles in chromatin organization by promoting the formation of chromatin loops. This \"non-canonical\" function of cohesin is expected to impact gene transcription during cell differentiation and embryonic development and its dis-regulation, caused by mutation/loss of genes encoding cohesin subunits or regulators, could originate the developmental defects observed in cohesinopathies. Ethiopathogenesis of WABS is discussed in line with these recent findings and evidence of a possible role of DDX11 as a cohesin regulator.</p>","PeriodicalId":506374,"journal":{"name":"The Application of Clinical Genetics","volume":"12 ","pages":"239-248"},"PeriodicalIF":3.1,"publicationDate":"2019-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2147/TACG.S186476","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37446053","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>COL2A1</i> Gene Mutations: Mechanisms of Spondyloepiphyseal Dysplasia Congenita.","authors":"Raffaella Nenna,&nbsp;Arianna Turchetti,&nbsp;Gerarda Mastrogiorgio,&nbsp;Fabio Midulla","doi":"10.2147/TACG.S197205","DOIUrl":"https://doi.org/10.2147/TACG.S197205","url":null,"abstract":"<p><p>The <i>COL2A1</i> gene consists of 54 exons spanning over 31.5 kb and encodes for type II collagen. Type II collagen is the main component of hyaline cartilage extracellular matrix, nucleus pulposus of intervertebral discus, vitreous humor of the eye and inner ear structure. Molecular defects in <i>COL2A1</i> gene cause a wide variety of rare autosomal-dominant conditions known as type II collagenopathies. A clear genotype-phenotype relationship is not yet known. However, some correlations are described. Spondyloephyseal dysplasia congenita was suggested for a short-trunk dwarfing condition affecting primarily the vertebrae and the proximal epiphyses of the long bones.</p>","PeriodicalId":506374,"journal":{"name":"The Application of Clinical Genetics","volume":"12 ","pages":"235-238"},"PeriodicalIF":3.1,"publicationDate":"2019-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2147/TACG.S197205","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37446052","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>ACE</i> gene polymorphism and its association with serum erythropoietin and hemoglobin ‎in Iraqi hemodialysis patients.","authors":"Mohanad Yasir Al-Radeef,&nbsp;Hayder Adnan Fawzi,&nbsp;Ali Abdulmajid Allawi","doi":"10.2147/TACG.S198992","DOIUrl":"https://doi.org/10.2147/TACG.S198992","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate the frequencies of <i>angiotensin-converting enzyme</i> gene ‎polymorphism in ‎Iraqi hemodialysis patients and to examine the association ‎between this polymorphism and ‎serum erythropoietin and hemoglobin levels.‎.</p><p><strong>Methods: </strong>In this study, 70 chronic renal failure Iraqi patients on ‎maintenance ‎hemodialysis (patient group) and 20 healthy subjects (control ‎group) were genotyped for ‎<i>angiotensin-converting enzyme</i> gene polymorphism. The distribution of genotype and allele ‎frequencies of this polymorphism in ‎these subjects were also evaluated.‎.</p><p><strong>Results: </strong>The distribution of angiotensin-converting enzyme genotypes between ‎groups was ‎similar, and the ID genotype was the most frequent, followed by DD and II ‎genotypes (‎50%‎, ‎37%‎, and ‎13%). The control group ‎had a nonsignificant difference in serum ‎erythropoietin levels among different angiotensin-converting enzyme genotypes, ‎while patients with ID and DD genotypes displayed significant ‎elevation in ‎serum erythropoietin with time. No significant differences in hemoglobin ‎levels ‎were observed in patient and control groups. A significant positive correlation ‎was ‎observed between serum erythropoietin and hemoglobin in the control group ‎with different ‎angiotensin-converting enzyme genotypes, while a nonsignificant ‎negative correlation was ‎observed in the patient group throughout the study. ‎.</p><p><strong>Conclusions: </strong>Chronic kidney disease did not significantly alter angiotensin-converting enzyme ‎genotypes, and <i>angiotensin-converting enzyme</i> gene ‎polymorphism had a significant effect on ‎serum erythropoietin levels and a non‎significant effect on hemoglobin levels. ‎.</p>","PeriodicalId":506374,"journal":{"name":"The Application of Clinical Genetics","volume":"12 ","pages":"107-112"},"PeriodicalIF":3.1,"publicationDate":"2019-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2147/TACG.S198992","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37422147","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tracing the effect of the melanocortin-4 receptor pathway in obesity: study design and methodology of the TEMPO registry.","authors":"Ihuoma Eneli,&nbsp;Jinyu Xu,&nbsp;Matthew Webster,&nbsp;Amy McCagg,&nbsp;Lex Van Der Ploeg,&nbsp;Alastair S Garfield,&nbsp;Elizabeth Estrada","doi":"10.2147/TACG.S199092","DOIUrl":"https://doi.org/10.2147/TACG.S199092","url":null,"abstract":"<p><p><b>Purpose:</b> The hypothalamic melanocortin-4 receptor (MC4R) pathway, a component of the central melanocortin pathway, regulates energy balance and satiety. Rare genetic disorders of obesity may be characterized by impaired MC4R pathway signaling, which results in early-onset severe obesity and insatiable hunger (hyperphagia). The TEMPO registry (NCT03479437) is a voluntary, prospective, open-ended registry of individuals with rare genetic disorders of obesity due to mutations in genes within the MC4R pathway who have early-onset severe obesity. The objective of the TEMPO registry is to evaluate the burden of rare genetic disorders of obesity on individuals, their parents/caregivers, health care providers, and the health care system. <b>Patients and methods:</b> Individuals with rare genetic disorders of obesity (adults aged ≥18 years and children and adolescents aged from 2 to 17 years) will be referred by their health care providers or by a genetic screening study. Individuals must meet age- and sex-specific body mass index values that define the clinical criteria for severe obesity and carry selected variants in <i>MC4R</i> or in one of several genes upstream or downstream of the MC4R. Online surveys will be completed by the individual, parent/caregiver, and health care provider at baseline and annually thereafter and will collect data on demographics, results of genetic testing, medical/family history, disease characteristics, resource utilization, eating habits/hunger episodes, social and emotional impacts, and interest in future clinical trial participation. <b>Conclusions:</b> The TEMPO registry will provide insights into the overall course and disease burden for individuals with rare genetic disorders of obesity. Health care providers may use this resource to improve the identification, diagnosis, and treatment of individuals with rare forms of genetic obesity.</p>","PeriodicalId":506374,"journal":{"name":"The Application of Clinical Genetics","volume":"12 ","pages":"87-93"},"PeriodicalIF":3.1,"publicationDate":"2019-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2147/TACG.S199092","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37088804","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ketogenic diet attenuates cerebellar atrophy progression in a subject with a biallelic variant at the <i>ATAD3A locus</i>.","authors":"Ashraf Al Madhoun,&nbsp;Fahad Alnaser,&nbsp;Motasem Melhem,&nbsp;Rasheeba Nizam,&nbsp;Tala Al-Dabbous,&nbsp;Fahd Al-Mulla","doi":"10.2147/TACG.S194204","DOIUrl":"https://doi.org/10.2147/TACG.S194204","url":null,"abstract":"<p><p>The ATPase AAA-domain protein 3 (ATAD3) is a ubiquitously expressed mitochondrial protein involved in mitochondrial dynamics, DNA-nucleoid structural organization, cholesterol transport and steroidogenesis. Mutations within the ancestral <i>ATAD3A</i> gene are strongly associated with neurological abnormalities due to alterations in the mitochondrial function and homeostasis. Here, we report the case of a subject diagnosed with developmental delay associated with ataxia and progressive atrophy of both cerebellar hemispheres and cerebellar vermis, despite exhibiting a normal biochemical profile. By whole exome sequencing, we identified two biallelic single nucleotide variants within the coding region of <i>ATAD3A</i> in the affected subject. Both variants were previously reported as monoallelic variants with uncertain clinical significance. Importantly, the variant <i>ATAD3A</i> c.251T>C leads to an amino acid change of a highly conserved residue across species and <i>in silico</i> analysis revealed structural alteration in the ATAD3A protein. Ketogenic diet was administered to the subject as a novel therapeutic approach. Notably, the treatment correlated with a reduction in cerebellum atrophy progression and the gradual enhancement of the subject's physical skills, vitality and personal interactions. Thus, we report the first subject with a homozygous status for the <i>ATAD3A</i> c.251T>C (p.Thr84Met) variant. We propose that this mutation led to an alteration of the mitochondrial function, causing the neurological symptoms observed in the subject. The symptoms were partially alleviated following ketogenic diet, improving the subject's quality of life.</p>","PeriodicalId":506374,"journal":{"name":"The Application of Clinical Genetics","volume":"12 ","pages":"79-86"},"PeriodicalIF":3.1,"publicationDate":"2019-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2147/TACG.S194204","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37088803","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Barth syndrome: mechanisms and management.","authors":"Josef Finsterer","doi":"10.2147/TACG.S171481","DOIUrl":"https://doi.org/10.2147/TACG.S171481","url":null,"abstract":"<p><p><b>Objectives:</b> Barth syndrome is an ultra-rare, infantile-onset, X-linked recessive mitochondrial disorder, primarily affecting males, due to variants in <i>TAZ</i> encoding for the cardiolipin transacylase tafazzin. This review aimed to summarize and discuss recent and earlier findings concerning the etiology, pathogenesis, clinical presentation, diagnosis, treatment, and outcome of Barth syndrome. <b>Method:</b> A literature review was undertaken through a MEDLINE search. <b>Results:</b> The phenotype of Barth syndrome is highly variable but most frequently patients present with hypertrophic/dilated/non-compaction cardiomyopathy, fibroelastosis, arrhythmias, neutropenia, mitochondrial myopathy, growth retardation, dysmorphism, cognitive impairment, and other, rarer features. Lactic acid and creatine kinase, and blood and urine organic acids, particularly 3-methylglutaconic acid and monolysocardiolipin, are often elevated. Cardiolipin is decreased. Biochemical investigations may show decreased activity of various respiratory chain complexes. The diagnosis is confirmed by documentation of a causative <i>TAZ</i> variant. Treatment is symptomatic and directed toward treating heart failure, arrhythmias, neutropenia, and mitochondrial myopathy. <b>Conclusions:</b> Although Barth syndrome is still an orphan disease, with fewer than 200 cases described so far, there is extensive ongoing research with regard to its pathomechanism and new therapeutic approaches. Although most of these approaches are still experimental, it can be expected that causative strategies will be developed in the near future.</p>","PeriodicalId":506374,"journal":{"name":"The Application of Clinical Genetics","volume":"12 ","pages":"95-106"},"PeriodicalIF":3.1,"publicationDate":"2019-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2147/TACG.S171481","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37088805","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mitochondrial DNA D-loop sequencing reveals obesity variants in an Arab population.","authors":"Muthukrishnan Eaaswarkhanth,&nbsp;Motasem Melhem,&nbsp;Prem Sharma,&nbsp;Rasheeba Nizam,&nbsp;Ashraf Al Madhoun,&nbsp;Gyaneshwer Chaubey,&nbsp;Osama Alsmadi,&nbsp;Ebaa AlOzairi,&nbsp;Fahd Al-Mulla","doi":"10.2147/TACG.S198593","DOIUrl":"https://doi.org/10.2147/TACG.S198593","url":null,"abstract":"<p><p><b>Background:</b> The association of mitochondrial DNA (mtDNA) variations with obesity has been investigated in diverse populations across the world. However, such obesity-associated mtDNA examinations are rarely conducted in Arab populations. <b>Materials and methods:</b> We re-sequenced mtDNA displacement loop (D-loop) region of 395 Arab individuals of Kuwait. We categorized the individuals based on their BMI scores as obese (n=232; BMI ≥30 kg/m²), overweight (n=110; BMI ≥25 kg/m² and <30 kg/m²), and lean (n=53; BMI <25 kg/m²). We performed all the statistical tests by combining obese and overweight individuals in one group. Association analyses were conducted applying Fisher's exact test and logistic regression model. <b>Results:</b> We identified that the mtDNA variations m.73A>G, and m.523delAC were positively correlated with obesity, while m.310T>C, and m.16318A>T were negatively associated. All these variants, except m.16318A>T, remain statistically significant after adjusting for age and gender. We found that the variant m.73A>G increases the likelihood of being obese by 6-fold, whereas haplogroup H decreases the probability of being obese in Arab individuals of Kuwait. Haplotype analysis revealed that a haplotype, A263G-C309CT-T310C, defining the H2a clade of H haplogroup, reduces the probability of being obese. <b>Conclusion:</b> Our study reports, for the first time, the obesity-related mtDNA variants in Arabs of Kuwait. Based on the mtDNA D-loop region variations, we detected particular variants and haplogroup that are related with increased and decreased probability of being obese in the Kuwait Arab population.</p>","PeriodicalId":506374,"journal":{"name":"The Application of Clinical Genetics","volume":"12 ","pages":"63-70"},"PeriodicalIF":3.1,"publicationDate":"2019-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2147/TACG.S198593","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37348016","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"High prevalence of genetic determined familial hypercholesterolemia in premature coronary artery disease.","authors":"Carlo Pirazzi,&nbsp;Lina Håkansson,&nbsp;Carola Gustafsson,&nbsp;Elmir Omerovic,&nbsp;Olov Wiklund,&nbsp;Rosellina Margherita Mancina","doi":"10.2147/TACG.S202942","DOIUrl":"https://doi.org/10.2147/TACG.S202942","url":null,"abstract":"<p><p><b>Background:</b> Premature coronary artery disease (CAD) is a major cause of mortality and morbidity. Increased low-density lipoprotein-cholesterol (LDL-C) level is a major risk factor for CAD and thus the main target for its prevention. Familial Hypercholesterolemia (FH) is a genetic inherited disorder characterized by high LDL-C, and subsequent premature CAD development. Early drug treatment with lipid-lowering medications in FH prevents cardiovascular disease onset. The FH prevalence in the Northern European general population is 0.3%, and it is estimated that it explains 20% of premature CAD cases in individuals with familial clustering. Despite the wide number of papers showing the prevalence of clinical FH in cardiovascular disease, the prevalence of genetic FH in individuals with premature CAD is not yet well known. Here, we examined the prevalence of genetically determined FH in individuals with premature CAD. <b>Patients and methods:</b> 66 patients who underwent coronary angiography with suspected premature acute coronary syndrome (age <50 years for men and <55 years for women) underwent genetic screening to identify FH-causing mutations. All patients underwent physical and clinical examinations. Information about family and personal history, drug therapy and habits were also collected. <b>Results:</b> We found FH-causative mutations in 3/66 (4.5%) screened individuals with premature CAD. When considering individuals with confirmed CAD after coronary angiography, the FH mutation prevalence was 6.1% (3/49). After excluding individuals with classical risk factors for CAD other than hypercholesterolemia, the FH mutation prevalence raised to 15.8% (3/19). <b>Conclusion:</b> In conclusion, we found that individuals with premature CAD have a more than 15-fold increased prevalence of FH mutations compared to the general population.</p>","PeriodicalId":506374,"journal":{"name":"The Application of Clinical Genetics","volume":"12 ","pages":"71-78"},"PeriodicalIF":3.1,"publicationDate":"2019-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2147/TACG.S202942","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37348017","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}