Molecular Syndromology最新文献_第2页

A Long-Term Follow-Up of a Patient with a Novel PORCN Variant and Additional Clinical Features 对一名患有新型 PORCN 变异和其他临床特征的患者进行长期随访

IF 1.1 4区医学

Molecular Syndromology Pub Date : 2024-01-04 DOI: 10.1159/000535681

Akçahan Akalın, K. Grzeschik, E. Utine, K. Boduroğlu, P. Simsek-Kiper

{"title":"A Long-Term Follow-Up of a Patient with a Novel PORCN Variant and Additional Clinical Features","authors":"Akçahan Akalın, K. Grzeschik, E. Utine, K. Boduroğlu, P. Simsek-Kiper","doi":"10.1159/000535681","DOIUrl":"https://doi.org/10.1159/000535681","url":null,"abstract":"Introduction: Focal dermal hypoplasia (FDH) is a genodermatosis also known as Goltz-Gorlin syndrome caused by pathogenic variants in the PORCN gene and inherited in an X-linked dominant manner. Given the course of X-linked dominant inheritance, affected males can only survive in the state of mosaicism for a PORCN pathogenic variant or in the presence of XXY karyotype. FDH is a multisystemic disorder in which cutaneous, ocular, and skeletal systems are primarily affected. Patients also may display intellectual disability and central nervous system abnormalities, yet most may have normal mental development. Case Presentation: We report on a currently 11-year-old female patient with a novel missense heterozygous PORCN variant who exhibited classical ectodermal, skeletal, and ocular findings in addition to mild intellectual disability, left-side diaphragm eventration, and puberty precox, a finding yet unreported in the literature. Conclusion: With this report, we aimed to expand the mutational spectrum and give insight into the importance of neurologic and skeletal system evaluation among other clinical features of FDH. Although gastrointestinal and genitourinary problems can occur during the course of the disease, to our knowledge, left-side diaphragm eventration and puberty precox are new features that have not been reported previously.","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"11 5","pages":""},"PeriodicalIF":1.1,"publicationDate":"2024-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139385271","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Novel Mutation in the HSD17B10 Gene Accompanied by Dysmorphic Findings in Female Patients 女性患者的 HSD17B10 基因发生新突变并伴有畸形症状

IF 1.1 4区医学

Molecular Syndromology Pub Date : 2024-01-04 DOI: 10.1159/000535589

Kısmet Çıkı, Ceren Alavanda, Murat Kara

{"title":"Novel Mutation in the HSD17B10 Gene Accompanied by Dysmorphic Findings in Female Patients","authors":"Kısmet Çıkı, Ceren Alavanda, Murat Kara","doi":"10.1159/000535589","DOIUrl":"https://doi.org/10.1159/000535589","url":null,"abstract":"Introduction: Hydroxysteroid 17-beta dehydrogenase type 10 (HSD10) protein is a mitochondrial enzyme. Multisystemic involvement occurs in HSD10 deficiency as in other mitochondrial diseases. HSD10 deficiency (disease) is rare. Less than 40 index cases have been reported so far. A female patient is even rarer because of X-linked transmission. Five index female cases have been reported. Case Presentation: We report a three-year-old female patient who was investigated due to microcephaly and global developmental delay. She had significant dysmorphic findings. The tiglylglycine peak was detected in urinary organic acid analysis. Other metabolic investigations and laboratory tests were unremarkable. Mild cerebral atrophy, mild ventricular dilation, thin corpus callosum, and an increase in T2 signal in the globus pallidus were revealed at brain magnetic resonance imaging. Heterozygous novel mutation in the HSD17B10 gene was found by whole-exome sequencing (WES) analysis. We started isoleucine-restricted diet and a “cocktail” of the mitochondrial vitamin. Discussion/Conclusion: We will see HSD10 disease patients more frequently with the increasing use of WES and genetic panels. Thus, different findings and phenotypes of the HSD10 disease will be revealed.","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"51 13","pages":""},"PeriodicalIF":1.1,"publicationDate":"2024-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139385774","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Whole-Exome Sequencing in Turkish Patients with Inherited Retinal Dystrophies Reveals Novel Variants in Ten Genes 土耳其遗传性视网膜营养不良症患者的全基因组测序发现十个基因的新变异

IF 1.1 4区医学

Molecular Syndromology Pub Date : 2023-12-28 DOI: 10.1159/000535590

Muserref Basdemirci, Hatice Kocak Eker

{"title":"Whole-Exome Sequencing in Turkish Patients with Inherited Retinal Dystrophies Reveals Novel Variants in Ten Genes","authors":"Muserref Basdemirci, Hatice Kocak Eker","doi":"10.1159/000535590","DOIUrl":"https://doi.org/10.1159/000535590","url":null,"abstract":"Introduction: Inherited retinal dystrophies (IRDs) associated with more than 300 genes are a clinically and genetically heterogeneous group of retinal diseases. This study aimed to identify causative gene variants and molecular basis of Turkish patients with IRD. Methods: Whole-exome sequencing was performed in 28 unrelated patients. The potential pathogenicity of variants was evaluated using the American College of Medical Genetics variant interpretation guidelines, in silico prediction tools, published literature or Human Gene Mutation Database, and compatibility with inheritance patterns or known phenotypes. Results: Causative variants in 21 genes, including MERTK, SNRP200, MYO7A, AIPL1, RDH12, OTX2, ADGRV1, RPGRIP1, SPATA7, USH2A, MFSD8, CDHR1, EYS, CACNA1F, CNGA3, RDH5, TULP1, BBS2, BEST1, RS1, GUCY2D were detected in 26 (92.9%) of 28 patients. The most prevalent causative variants were observed MERTK (10.7% of cases), followed by CDHR1, AIPL1, RDH12, SPATA7, CNGA3, TULP1 (7.1% of cases, each). The most common variant type in this study was missense variants (53%), followed by frameshift (21%), nonsense (20%), and splice (6%). Twelve novel variants, 6 of frameshift and 6 of missense, were detected in ten genes. Retinitis pigmentosa was the most common phenotype followed by Leber congenital amaurosis. Conclusion: This study provides an overview of causative gene variants in Turkish patients with IRD. Variants identified in this study expand the variant spectrum of IRD genes. We believe it is essential to combine molecular and clinical data to diagnose IRD patients, especially with the emergence of therapeutic options.","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"24 16","pages":""},"PeriodicalIF":1.1,"publicationDate":"2023-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139148580","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Severe Early-Onset Obesity and Diabetic Ketoacidosis due to a Novel Homozygous c.169C>T p.Arg57* Variant in CEP19 Gene CEP19 基因中一个新的同源 c.169C>T p.Arg57* 变异导致的严重早发肥胖症和糖尿病酮症酸中毒

IF 1.1 4区医学

Molecular Syndromology Pub Date : 2023-12-19 DOI: 10.1159/000535253

A. Çayır, Ayberk Turkyilmaz, Hannah Rabenstein, Fadime Guven, Yuksel Sumeyra Karagoz, D. Vurallı, Martin Wabitsch, Huseyin Demirbilek

{"title":"Severe Early-Onset Obesity and Diabetic Ketoacidosis due to a Novel Homozygous c.169C>T p.Arg57* Variant in CEP19 Gene","authors":"A. Çayır, Ayberk Turkyilmaz, Hannah Rabenstein, Fadime Guven, Yuksel Sumeyra Karagoz, D. Vurallı, Martin Wabitsch, Huseyin Demirbilek","doi":"10.1159/000535253","DOIUrl":"https://doi.org/10.1159/000535253","url":null,"abstract":"Introduction: Early-onset severe obesity is usually the result of an underlying genetic disorder, and several genes have recently been shown to cause syndromic and nonsyndromic forms of obesity. The “centrosomal protein 19 (CEP19)” gene encodes for a centrosomal and ciliary protein. Homozygous variants in the CEP19 gene are extremely rare causes of early-onset severe monogenic obesity. Herein, we present a Turkish family with early-onset severe obesity with variable features. Methods: Sanger sequencing and whole-exome sequencing were performed to identify the genetic etiology in the family. Results: The index case was a 12-year-old female who presented with severe obesity (BMI of 62.7 kg/m2), metabolic syndrome, and diabetic ketoacidosis. Her nonidentical twin female siblings also had early-onset severe obesity, metabolic syndrome, and diabetes. In addition, one of the affected siblings had situs inversus abdominalis, polysplenia, lumbar vertebral fusion, and abnormal lateralization. A novel homozygous nonsense (c.169C>T, p. Arg57*) pathogenic variant was detected in exon 3 of the CEP19 gene in all affected members of the family. One unaffected sister and unaffected parents were heterozygous for the variant. This variant is predicted to cause a stop codon at amino acid sequence 57, leading to a truncated CEP19 protein. Discussion/Conclusion: Our study expands the phenotypical manifestations and variation database of CEP19 variants. The findings in one of our patients reaffirm its role in the assembly and function of both motile and immotile cilia.","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"178 11","pages":""},"PeriodicalIF":1.1,"publicationDate":"2023-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139172473","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Delayed Bone Age in a Child with a Novel Loss-of-Function Variant in SETBP1 Gene Sheds Light on the Potential Role of SETBP1 Protein in Skeletal Development SETBP1 基因新型功能缺失变异儿童的骨龄延迟揭示了 SETBP1 蛋白在骨骼发育中的潜在作用

IF 1.1 4区医学

Molecular Syndromology Pub Date : 2023-12-12 DOI: 10.1159/000535057

G. Miolo, Davide Colavito, Lara Della Puppa, Giuseppe Corona

{"title":"Delayed Bone Age in a Child with a Novel Loss-of-Function Variant in SETBP1 Gene Sheds Light on the Potential Role of SETBP1 Protein in Skeletal Development","authors":"G. Miolo, Davide Colavito, Lara Della Puppa, Giuseppe Corona","doi":"10.1159/000535057","DOIUrl":"https://doi.org/10.1159/000535057","url":null,"abstract":"Introduction: SETBP1 gene variants that decrease or eliminate protein activity have been associated with phenotypes characterized by speech apraxia and intellectual disabilities. This condition, distinctly separated from Schinzel-Giedion syndrome, is referred to as autosomal dominant mental retardation 29 (ADR29). Case Presentation: In this report, we present the case of a 6-year-old male patient exhibiting fine and global motor skill impairments along with expressive language delay. The patient carried a novel germline, heterozygous, de novo nonsense variant in the SETBP1 gene, specifically the c.532C>T variant, which prematurely terminates protein translation at amino acid 178, p.(Gln178*), and removes more than 10% of the reference protein isoform consisting of 1,596 amino acids. According to the American College of Medical Genetics and Genomics (ACMG) guidelines, this variant has been classified as pathogenic. Conclusion: Given the limited number of ADR29 cases reported to date, it is critical to focus attention on the phenotypic features of each new individual and seek out previously undocumented defects. The clinical findings found in our patient align with current knowledge on the correlation between the genotypes characterized by loss-of-function variants in SETBP1 gene and a particular neurological phenotype. Furthermore, the presence of a severely delayed bone age in this patient, which we report for the first time, could indicate a possible indirect but significant contribution of the SETBP1 protein in bone development and maturation processes. This finding highlights the need for further investigation into the potential effects of SETBP1 gene variants on bone health and the possible involvement of the SETBP1 protein in skeletal growth and development.","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"11 34","pages":""},"PeriodicalIF":1.1,"publicationDate":"2023-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138977046","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19 一名因 PCDH19 马赛克错义变异而患有婴儿癫痫的男童

IF 1.1 4区医学

Molecular Syndromology Pub Date : 2023-12-06 DOI: 10.1159/000535144

Giulia Parmeggiani, R. Minardi, Antonella Boni, Jacopo Pruccoli, Antonella Pini, L. Licchetta, F. Bisulli, Claudio Graziano, Marco Seri

{"title":"A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19","authors":"Giulia Parmeggiani, R. Minardi, Antonella Boni, Jacopo Pruccoli, Antonella Pini, L. Licchetta, F. Bisulli, Claudio Graziano, Marco Seri","doi":"10.1159/000535144","DOIUrl":"https://doi.org/10.1159/000535144","url":null,"abstract":"Background: Pathogenic variants of PCDH19, located on the X-chromosome (Xq22.1), cause a rare epileptic encephalopathy with speech and development delay, seizures, behavioral and psychiatric problems. The specific underlying pathogenic mechanism is known as “cellular interference” that results in affected heterozygous females, normal hemizygous males and affected mosaic males but its functioning is not yet clear. Objectives: Reporting new cases of affected males is considered useful to a deeper insight. Subject and Method: We present the case of a three-year-old boy with early-onset seizures at 3 months of age, mild cognitive impairment, partial control of seizures with levetiracetam, normal brain imaging. Results: The patient has a mosaic pathogenic variant c.698A>G (p.Asp233Gly) in PCDH19 assessed by Next Generation Sequencing analysis. We have compared his characteristics with the genotypes and phenotypes of 34 PCDH19 mosaic males earlier reported in the literature. Finally, we have summarized today’s knowledge about phenotype-genotype correlation and pharmacological response in these patients. Conclusions: Our report confirms that the clinical picture of mosaic affected males, resembling that of females, can show a wide variability in severity of disease and underlines a stringent need to improve therapeutic approaches and to collect data on long-term follow-up.","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"9 9","pages":""},"PeriodicalIF":1.1,"publicationDate":"2023-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138596871","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Report of a Novel Homozygous Intragenic DCC Duplication and a Review of Literature of Developmental Split-Brain Syndrome aka Horizontal Gaze Palsy with Progressive Scoliosis-2 with Impaired Intellectual Development Syndrome 新型同基因内DCC重复的报告以及发育性裂脑综合征又称水平凝视麻痹伴进行性脊柱侧凸-2智力发育障碍综合征的文献综述

IF 1.1 4区医学

Molecular Syndromology Pub Date : 2023-12-04 DOI: 10.1159/000534772

Elisa Rahikkala, Taneli Väisänen, Liisa Ojala, Pia Pohjola, Minna Toivonen, R. Parkkola, Maria K. Haanpää

{"title":"Report of a Novel Homozygous Intragenic DCC Duplication and a Review of Literature of Developmental Split-Brain Syndrome aka Horizontal Gaze Palsy with Progressive Scoliosis-2 with Impaired Intellectual Development Syndrome","authors":"Elisa Rahikkala, Taneli Väisänen, Liisa Ojala, Pia Pohjola, Minna Toivonen, R. Parkkola, Maria K. Haanpää","doi":"10.1159/000534772","DOIUrl":"https://doi.org/10.1159/000534772","url":null,"abstract":"Introduction: Horizontal gaze palsy with progressive scoliosis-2 (HGPPS2, MIM 617542) with impaired intellectual development aka developmental split-brain syndrome is an ultra-rare congenital disorder caused by pathogenic biallelic variants in the deleted in colorectal cancer (DCC) gene. Case Presentation: We report the clinical and genetic characterization of a Syrian patient with a HGPPS2 phenotype and review the previously published cases of HGPPS2. The genetic screening was performed using exome sequencing on Illumina platform. Genetic analysis revealed a novel DCC c.(?_1912)_(2359_?)dup, p.(Ser788Tyrfs*4) variant segregating recessively in the family. This type of variant has not been described previously in the HGPPS2 patients. To date, including the case reported here, three different homozygous pathogenic frameshift variants, one homozygous missense variant, and an intragenic duplication in the DCC gene have been reported in 8 patients with the HGPPS2 syndrome. Conclusion: The analysis of duplications and deletions in the DCC should be included in the routine genetic diagnostic evaluation of patients with suspected HGPPS2. This report expands the knowledge of phenotypic and genotypic spectrum of pathogenic variants causing HGPPS2.","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"14 26","pages":""},"PeriodicalIF":1.1,"publicationDate":"2023-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138601823","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Further Evidence for RFWD3 Gene Causing Fanconi Anemia Complementation Group W: Detailed Clinical Report of the Second Case in the Literature. RFWD3基因引起范可尼贫血补体组W的进一步证据:文献第二例详细临床报告

IF 1.1 4区医学

Molecular Syndromology Pub Date : 2023-12-01 Epub Date: 2023-08-04 DOI: 10.1159/000531429

Sinem Kocagil, İkbal Nur Şafak, Elif Saraç, Can Aydın, Sevilhan Artan, Birgül Kırel

{"title":"Further Evidence for RFWD3 Gene Causing Fanconi Anemia Complementation Group W: Detailed Clinical Report of the Second Case in the Literature.","authors":"Sinem Kocagil, İkbal Nur Şafak, Elif Saraç, Can Aydın, Sevilhan Artan, Birgül Kırel","doi":"10.1159/000531429","DOIUrl":"10.1159/000531429","url":null,"abstract":"Introduction: Fanconi anemia (FA) is a heterogeneous genetic disorder that is characterized by progressive bone marrow failure, congenital malformations, predisposition to malignancy, and short stature. The RFWD3 gene was recently associated with FA complementation group W, and only 1 patient is reported in the literature so far.Case presentation: Here, we report the second patient, a 10-year-old male, who has failure to thrive, central nervous system abnormalities, bilateral radial ray defects, urogenital anomalies, facial dysmorphism, and thrombocytopenia. The patient was suspected to have FA according to the aforementioned findings, and the homozygous c.1501C>T variant in the RFWD3 gene was detected by whole-exome sequencing. The diepoxybutane test and mitomycin C-induced peripheral blood cultures revealed 0.46 and 0.90 chromosomal breaks, respectively.Conclusion: In this article, clinical findings of the second patient with FA complementation group W are discussed in detail, aiming to expand the clinical and molecular spectrums of the disease.","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"1 1","pages":"509-515"},"PeriodicalIF":1.1,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10697762/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41356513","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Contents Vol. 14, 2023 目录14, 2023

IF 1.1 4区医学

Molecular Syndromology Pub Date : 2023-12-01 DOI: 10.1159/000535256

引用次数: 0

Sequence Variants in the WNT10B Underlying Non-Syndromic Split-Hand/Foot Malformation. WNT10B潜在非综合征性手足裂畸形的序列变异。

IF 1.1 4区医学

Molecular Syndromology Pub Date : 2023-12-01 Epub Date: 2023-06-20 DOI: 10.1159/000531069

Muhammad Bilal, Tobias B Haack, Rebecca Buchert, Susana Peralta, Imtiaz Ahmad, Faisal, Sanaullah Abbasi, Wasim Ahmad

{"title":"Sequence Variants in the WNT10B Underlying Non-Syndromic Split-Hand/Foot Malformation.","authors":"Muhammad Bilal, Tobias B Haack, Rebecca Buchert, Susana Peralta, Imtiaz Ahmad, Faisal, Sanaullah Abbasi, Wasim Ahmad","doi":"10.1159/000531069","DOIUrl":"10.1159/000531069","url":null,"abstract":"Introduction: Split hand and foot malformation (SHFM) or ectrodactyly is a rare limb deformity characterized by median cleft of the hand and foot with impaired or missing central rays. It can occur as an isolated anomaly or in association with abnormalities of other body parts.Methods: After delineating the clinical features of two families (A-B), with non-syndromic SHFM, exome and Sanger sequencing were employed to search for the disease-causing variants.Results: Analysis of exome and Sanger sequencing data revealed two causative variants in the WNT10B gene in affected members of the two families. This included a novel missense change [c.338G>C; p.(Gly113Ala)] in family A and a previously reported frameshift variant [c.884-896delTCCAGCCCCGTCT; p.(Phe295Cysfs*87)] in family B.Conclusion: Our findings add a novel variant in WNT10B gene as the underlying cause of SHFM. The finding adds to the growing body of knowledge about the genetic basis of developmental disorders and provides valuable insights into the molecular mechanisms that regulate limb development.","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"14 6","pages":"469-476"},"PeriodicalIF":1.1,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10697732/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138499851","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0