Case Reports in Genetics最新文献

{"title":"Clinical Heterogeneity of a <i>TP53</i> Variant in a Consanguineous Omani Family: A Case Report Featuring a Homozygous Pathogenic Variant.","authors":"Mariya Al Hinai, Chantel Van Wyk, Manal Al Kharusi, Nishath Hamza, Abeer Al Batashi, Abeer Al Sayegh, Maryam Al Shihhi","doi":"10.1155/crig/1809799","DOIUrl":"https://doi.org/10.1155/crig/1809799","url":null,"abstract":"<p><strong>Background: </strong>Li-Fraumeni syndrome (LFS) is a rare, autosomal dominant cancer predisposition syndrome caused by germline mutations in the <i>TP53</i> gene. While heterozygous <i>TP53</i> variants are well-characterized, homozygous germline mutations are extremely rare, and their clinical significance remains poorly understood. Such cases are more likely to arise in consanguineous families, where shared genetic ancestry increases the risk of homozygosity.</p><p><strong>Case presentation: </strong>We report a consanguineous Omani family with a homozygous <i>TP53</i> missense variant, in a male infant who presented with multiple hypopigmented skin macules and a strong family history of childhood and adult-onset cancers. Several relatives were identified as heterozygous carriers of the same pathogenic variant. A deceased older sibling exhibited similar cutaneous findings and early malignancy, suspecting he may also have carried the homozygous variant. These skin manifestations may represent a novel phenotypic feature not previously associated with LFS.</p><p><strong>Discussion: </strong>This case adds to the limited literature on homozygous <i>TP53</i> variants and raises the possibility of a link between cutaneous features and homozygosity. While heterozygous carriers often exhibit variable penetrance, the homozygous state may be associated with earlier and more severe phenotypes. Genetic counseling in such families is complex due to uncertainty in predicting clinical outcomes and the psychosocial burden of decision-making, particularly in children. Challenges in family communication further hinder risk awareness and testing uptake.</p><p><strong>Conclusion: </strong>This is the first reported case of a homozygous <i>TP53</i> p.Arg158His variant in the Omani population, expanding the phenotypic spectrum of LFS. Our findings underscore the importance of genetic counseling, cascade testing, and long-term surveillance in consanguineous families with hereditary cancer syndromes, and call for further research into genotype-phenotype correlations and associated dermatological findings.</p>","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2026 ","pages":"1809799"},"PeriodicalIF":0.0,"publicationDate":"2026-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13112418/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147783424","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":"Prolonged Survival With Homozygous Deletion of Exon 9 in Perlman Syndrome: A Case Report.","authors":"Esther Levy, Leighton Elliott, Michal A Miller, Mackenzie Kramer","doi":"10.1155/crig/9916711","DOIUrl":"https://doi.org/10.1155/crig/9916711","url":null,"abstract":"<p><p>Perlman syndrome is a rare autosomal recessive overgrowth disorder characterized by macrosomia, nephromegaly, renal dysplasia, and characteristic facial features. It has both similarities and differences to other more common overgrowth syndromes. Pathogenic homozygosity is extremely rare in nonconsanguineous relationships. Survival is predicted by differences among various germline mutations in the DIS3L2 gene on chromosome 2q37.1, with prolonged survival documented in heterozygous mutations allowing partial exoribonuclease function. Although homozygous deletions of exon 9 are rare and have been associated with poor survival, we describe a case report of the only known patient with Perlman syndrome to live past 2 years old with this deletion. Diligent management and surveillance may be associated with prolonged survival in Perlman syndrome.</p>","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2026 ","pages":"9916711"},"PeriodicalIF":0.0,"publicationDate":"2026-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13109714/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147783358","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":"Complete Androgen Insensitivity Syndrome (CAIS) Genetic Counseling: Navigating Germline Mosaicism Concerns.","authors":"Lauren M Iacono, Paul A Levy, Tamar G Baer","doi":"10.1155/crig/1224893","DOIUrl":"https://doi.org/10.1155/crig/1224893","url":null,"abstract":"<p><p>Complete androgen insensitivity syndrome (CAIS) is caused by pathogenic variants in the androgen receptor (AR) gene that lead to a phenotypically female appearance in XY individuals. It is almost always inherited as an X-linked recessive condition. Here, we present two sisters with different clinical courses. AR gene sequencing revealed identical hemizygous pathogenic variants in both sisters but not in the mother. This rare occurrence of germline mosaicism is the first described in CAIS. Germline mosaicism should be considered when \"<i>de novo</i>\" AR gene variants are identified. Despite the low recurrence risk, counseling would be beneficial to families so they can make well-informed prenatal and reproductive plans.</p>","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2026 ","pages":"1224893"},"PeriodicalIF":0.0,"publicationDate":"2026-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13069466/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147676634","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":"Novel Generation-Skipping Inheritance Pattern of Marfan Syndrome Due to <i>FBN1</i> Insertional Translocation: Diagnostic Utility of FISH and Implications for Genetic Counseling.","authors":"Breanna Beers, Hamilton Wexler, Gretchen MacCarrick","doi":"10.1155/crig/1611720","DOIUrl":"https://doi.org/10.1155/crig/1611720","url":null,"abstract":"<p><p>Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by pathogenic variants in the fibrillin-1 (<i>FBN1</i>) gene on Chromosome 15q21.1. A 3-year-old female presented to the clinic with MFS and a family history of an affected maternal uncle and maternal great-aunt. The proband and the uncle had a positive thoracic aortic aneurysm and dissection (TAAD) panel for MFS revealing an <i>FBN1</i> deletion. This was confirmed on proband's chromosome microarray; however, the mother was negative for the <i>FBN1</i> deletion. Fluorescence in situ hybridization (FISH) was used in this case to show a unique chromosome rearrangement in the unaffected mother with an insertional translocation of the 15q21.1 loci (<i>FBN1</i>) to Chromosome 7p. This led to an affected child who inherited the nontranslocated Chromosome 7 and the 15q21 (<i>FBN1</i>) deletion. Thus, individuals in the family inheriting Chromosome 7 with the <i>FBN1</i> insertional translocation are protected from the MFS phenotype. This supports the known autosomal dominant inheritance pattern while allowing for uncharacteristic skipping of generations of MFS in this family.</p>","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2026 ","pages":"1611720"},"PeriodicalIF":0.0,"publicationDate":"2026-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12972207/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147436263","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":"A Rare Case of Concurrent SNRPB Mutation and 22q11.2 Microduplication in a Child With Cerebro-Costo-Mandibular Syndrome.","authors":"Elizabeth Slear, Claire Thompson, Virginia Ruas","doi":"10.1155/crig/4169170","DOIUrl":"https://doi.org/10.1155/crig/4169170","url":null,"abstract":"<p><p>We present a unique case of an infant born with both a microduplication of 22q11.2 and SNRPB gene mutations suggestive of cerebro-costo-mandibular syndrome (CCMS). Microduplications of 22q11 are known to present with a variety of phenotypes ranging from asymptomatic to significant physical and mental health challenges. CCMS is a rare autosomal dominant condition caused by a mutation in the SNRPB gene and typically presents with posterior rib malformations and branchial arch deformities. There have been less than 100 reported cases of CCMS in the literature, and this may be the first documented case of a patient with both CCMS and a 22q11 microduplication.</p>","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2026 ","pages":"4169170"},"PeriodicalIF":0.0,"publicationDate":"2026-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12917849/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147272062","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":"Three Unrelated Children With Childhood Apraxia of Speech: Exome Sequencing and Functional Gene Analysis Imply a Role of Laminin-511 in Early Neurodevelopment.","authors":"Caitlin Raaz, Laurel Bruce, Madhavi Ganapathiraju, Judith Klein-Seetharaman, Li Liu, Valentin Dinu, Marjan Chapi, Eunhyo Kim, Yookyung Kim, Tiffanie White, Beate Peter","doi":"10.1155/crig/9927839","DOIUrl":"10.1155/crig/9927839","url":null,"abstract":"<p><p>Childhood apraxia of speech (CAS) is characterized by motor discoordination in the speech domain and also in fine and gross motor systems, implicating the early developing cerebellum. Comorbidity with autism spectrum disorder (ASD) and other neurodevelopmental conditions has been observed. The genetic etiology is highly heterogeneous. Here, we present three unrelated individuals with CAS and concomitant fine and gross motor involvement but different genetic variants of interest. The DNA of the cases and their parents underwent exome sequencing and variant filtering. Using publicly available data, the genes of interest derived from the variants were investigated for expression rates in the early developing brain. Known and putative protein-protein interactions among the genes of highest confidence were identified. Of 28 variants in 28 different genes, variants with highest confidence were situated in <i>FOXN4</i>, <i>LAMA5</i>, <i>LAMB1</i>, <i>LRRK2</i>, and <i>USP17L2</i>. High gene expression rates in the developing cerebellum were observed for <i>LAMA5</i> and <i>LAMB1</i>. These genes encode the α5 and β1 subunits, respectively, of the heterotrimeric extracellular laminin-511 complex, a major component of the basal membrane in many tissues. Network analysis of the five high-confidence genes required expansion with only one additional gene, <i>CDK6</i>, to arrive at a fully connected network. The addition of four genes and inclusion of transcriptional regulation as an additional edge type allowed connecting all 28 genes of interest to arrive at a dense connectome with 32 nodes and 73 edges, representing a network enrichment with <i>p</i> value of < 0.001, suggesting that our network has significantly more interactions than expected under random conditions. We conclude that high levels of genetic heterogeneity converge on a functional gene network governed by stimulation of cells through laminin-511 with shared direct or regulatory expression in the developing cerebellum and phenotypic overlaps of CAS, ASD, and other neurodevelopmental disorders.</p>","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2026 ","pages":"9927839"},"PeriodicalIF":0.0,"publicationDate":"2026-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12905466/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146202837","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":"Hereditary Myopathy With Early Respiratory Failure Associated With an Incidental <i>COL4A5</i> Variant: A Case Report.","authors":"Ursula Abu Nahla, Rahaf Bleibel, Mai Arafeh, Saif Khaled Abdalhadi Azzam, Lina Barhoum, Mostafa Ibraheem, Motaz Altamimi, Bashar Sultan, Orwa Al Fallah","doi":"10.1155/crig/1630468","DOIUrl":"10.1155/crig/1630468","url":null,"abstract":"<p><strong>Background: </strong>Hereditary myopathy with early respiratory failure (HMERF) is a rare autosomal dominant disorder caused by <i>TTN</i> variants. <i>COL4A5</i> mutations are linked to X-linked Alport syndrome.</p><p><strong>Case presentation: </strong>A 34-year-old male developed progressive lower limb weakness, gait disturbance, nocturnal hypoventilation, and calf hypertrophy. Family history revealed similar symptoms in his mother and sister. Examination showed absent reflexes; MRI demonstrated muscle atrophy and fatty replacement; needle electromyography (EMG) was performed and showed findings consistent with advanced myopathy; however, it was not used as a primary diagnostic tool. Whole-exome sequencing identified a pathogenic <i>TTN</i> variant (c.95126C > G, p.Pro31709Arg), confirming HMERF. A hemizygous <i>COL4A5</i> variant (c.4891C > T, p.Arg1631Cys) was also detected but lacked clinical correlation.</p><p><strong>Discussion and conclusion: </strong>This case illustrates a classic HMERF phenotype confirmed genetically, with an incidental <i>COL4A5</i> variant of uncertain significance. It underscores the importance of genomic testing in atypical neuromuscular presentations and the need for cautious interpretation of incidental findings.</p>","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2026 ","pages":"1630468"},"PeriodicalIF":0.0,"publicationDate":"2026-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12890873/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146182746","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":"First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous <i>CANT1</i> Mutations: Expanding the Molecular Spectrum.","authors":"Supitcha Thamissarakul, Teeraphorn Boonswang, Sethapong Lertsakulbunlue, Siriluk Khumsui, Boonchai Boonyawat","doi":"10.1155/crig/9550632","DOIUrl":"10.1155/crig/9550632","url":null,"abstract":"<p><p>Desbuquois dysplasia Type 1 (DBQD1) is an extremely rare autosomal recessive skeletal dysplasia characterized by severe short stature, joint laxity, distinct facial dysmorphism, and advanced carpotarsal ossification. Here, we report the first Thai patient diagnosed with classical lethal DBQD1. A 38-week male infant presented with multiple dysmorphic features, micromelia, joint dislocations, narrow thorax, and respiratory insufficiency leading to death at seven months of age. Radiographic findings revealed hallmark features, including a \"Swedish key\" appearance of the proximal femur and characteristic hand and foot anomalies. Whole exome sequencing identified compound heterozygous missense variants of c.505G > <i>A</i> (p.Asp169Asn) and c.1028G > <i>T</i> (p.Gly343Val) in the <i>CANT1</i> gene. The 3D structural modeling revealed that both variants reside in conserved regions, with predicted effects on calcium binding and protein folding, resulting in impaired enzymatic function and proteoglycan synthesis. Genetic counseling was provided to the family, and prenatal or preimplantation genetic diagnosis was discussed as an option for future pregnancies. Our report expands the mutational spectrum of the <i>CANT1</i> gene, contributing to a better understanding of DBQD1's clinical and molecular presentation, particularly in Southeast Asian populations.</p>","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2026 ","pages":"9550632"},"PeriodicalIF":0.0,"publicationDate":"2026-02-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12887226/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146167081","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":"The Ketogenic Diet in the Neonatal Intensive Care Setting: The Case of a Preterm Newborn With Mitochondrial DNA Depletion Syndrome Type 13 (MTDPS13).","authors":"Gabriele D'Amato, Mattia Gentile, Rossella Carella, Antonio Giannini, Maria Felicia Faienza, Albina Tummolo","doi":"10.1155/crig/6492770","DOIUrl":"10.1155/crig/6492770","url":null,"abstract":"<p><strong>Background: </strong>Mitochondrial DNA depletion syndrome 13 (MTDPS13) is an autosomal recessive disorder presenting in early infancy with encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay. Patient-derived cells typically exhibit impaired mitochondrial oxidative phosphorylation and a marked reduction in mitochondrial DNA (mtDNA) copy number.</p><p><strong>Case report: </strong>We report the case of a male preterm neonate born at 31 + 3 weeks of gestation following a pregnancy marked by severe polyhydramnios. At birth, his weight was 1400 g. Physical examination revealed dysmorphic features, redundant and lax skin, and generalized muscular hypotonia. Laboratory investigations showed marked lactic acidosis associated with lactic aciduria, ketonuria, and urinary biomarkers indicating activation of preoxidative phosphorylation biochemical pathways to sustain ATP production. Echocardiography demonstrated mild, early-onset hypertrophic cardiomyopathy. <b>The Exome Analysis Clinical and Biochemical Markers:</b> The exome analysis, performed within the first week of life, highlighted a pathogenic variant in homozygous state of <i>FBXL4</i> gene (c.1648_1649delGA), which led to the diagnosis of MTDPS13. In this clinical contest, a ketogenic diet (KD) was started with a daily caloric intake of 120 kcal/kg and an initial ketogenic ratio of 1:1. These intakes were administered both with a parenteral nutrition and continuous nasogastric tube feeding and were gradually increased and adapted on a day-by-day basis according to lactic acidosis, growth increase, and common metabolic parameters such as glucose, electrolytes, creatinine, and blood urea nitrogen. After 3 days of this treatment approach, a significant reduction in lactate levels and improvement in acid-base balance and growth trend were observed along with clinical and cardiovascular parameters. At discharge from neonatal intensive care unit, the KD was continued at home and during follow-up. The infant showed stability in the clinical and biochemical markers.</p><p><strong>Conclusions: </strong>This is the first documented report of the use of a KD in a preterm neonate with this mitochondrial disorder during the early days of life. Prompt genetic confirmation and early initiation of KD may enable a more targeted and effective management of MTDPS within the neonatal intensive care setting.</p>","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2026 ","pages":"6492770"},"PeriodicalIF":0.0,"publicationDate":"2026-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12862271/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146114432","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":"Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature.","authors":"Zakia Abdelhamed, Daniel Dykas, Autumn DiAdamo, Hongyan Chai, Deqiong Ma, Michele Spencer-Mazon, Yong-Hui Jiang, Jiadi Wen, Allen Bale, Peining Li, Hui Zhang","doi":"10.1155/crig/4494577","DOIUrl":"10.1155/crig/4494577","url":null,"abstract":"<p><p>Trisomy 8 mosaicism (T8M) syndrome is a rare aneuploidy condition affecting 1/25,000-50,000 live births. Affected individuals have highly variable phenotypes from very mild dysmorphism to severe structural anomalies caused by chromosomal mosaicism and possibly undetected molecular aberrations. The utilization of chromosome microarray analysis (CMA) and exome sequencing (ES) in clinical laboratories enable the identification of genomic copy number imbalances and pathogenic gene variants. We presented one patient with a double aneuploid mosaic pattern of Monosomy X and Trisomy 8 for a compound phenotype of Turner syndrome (TS) and T8M syndrome, the second patient with T8M and a mosaic pathogenic variant in the <i>PTEN</i> gene detected by ES, and the third patient with typical phenotypic constellation of malformations with no other genetic aberrations detected by CMA and ES. Classification of mosaic findings was provided using a recommended six-attribute scheme. Review of the literature summarized cases of T8M with concomitant molecular defects of a deletion at 22q11.2 and pathogenic variants in the <i>SALL1</i>, <i>RECQL4</i>, <i>NF1</i>, <i>CASK,</i> and <i>PAH</i> genes. These observations indicated that integrated cytogenetic and genomic analyses should be offered to patients with phenotypic abnormalities outside the spectrum of the T8M syndrome for comprehensive laboratory diagnosis and clinical management.</p>","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2026 ","pages":"4494577"},"PeriodicalIF":0.0,"publicationDate":"2026-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12855162/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146107582","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}