Clinical characterization and genetic analysis of TRPV4-related skeletal dysplasias in 4 Chinese families

2016 ◽  
Author(s):  
Yue Chi ◽  
Qianqian Pang ◽  
Lijun Xu ◽  
Yan Jiang ◽  
Mei Li ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Chinese Families ◽  
Skeletal Dysplasias

Clinical and genetic analysis for four Chinese families with Prader–Willi syndrome

Endocrine ◽  
2009 ◽  
Vol 36 (1) ◽  
pp. 37-44 ◽  
Author(s):  
Yu-wen Zhang ◽  
Hui-ying Jia ◽  
Jie Hong ◽  
Yan Ge ◽  
Hui-jie Zhang ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Prader Willi Syndrome ◽  
Chinese Families

scholarly journals Genetic analysis of 1051 Chinese families with Duchenne/Becker Muscular Dystrophy

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Xiangdong Kong ◽  
Xingjian Zhong ◽  
Lina Liu ◽  
Siying Cui ◽  
Yuxia Yang ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Genetic Analysis ◽  
Becker Muscular Dystrophy ◽  
Chinese Families

Clinical and genetic analysis of two Chinese families with benign familial neonatal convulsions

2005 ◽  
Vol 15 (8) ◽  
pp. 757-760
Author(s):  
Li Haiyan ◽  
Tang Beisha ◽  
Xia Kun ◽  
Cao Guifang ◽  
Shen Lu ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Chinese Families ◽  
Neonatal Convulsions

scholarly journals Genetic analysis and prenatal diagnosis of 76 Chinese families with X‐linked adrenoleukodystrophy

2021 ◽  
Author(s):  
Siwen Liu ◽  
Lin Li ◽  
Hairong Wu ◽  
Pei Pei ◽  
Xuefei Zheng ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Genetic Analysis ◽  
Chinese Families

scholarly journals Report of Two Siblings with Overlapping Features of Ellis-van Creveld and Weyers Acrodental Dysostosis

2012 ◽  
Vol 2 ◽  
pp. 18 ◽  
Author(s):  
Devi C. Shetty ◽  
Harkanwal P. Singh ◽  
Prince Kumar ◽  
Chanchal Verma
Keyword(s):  
Genetic Analysis ◽  
Skeletal Dysplasias ◽  
Postaxial Polydactyly ◽  
Heterogenous Group ◽  
Chromosome 4P16 ◽  
Ellis Van Creveld Syndrome ◽  
Mode Of Inheritance

Skeletal dysplasias are a heterogenous group of disorders combining abnormalities in the skull and other skeletal bones. Weyers acrofacial dysostosis also known as Weyers acrodental dysostosis was first described in 1952, by Weyers, as a postaxial polydactyly, which had features distinct from, yet some in common with the Ellis-van Creveld Syndrome (EvC). Both the syndromes have been mapped to the same chromosome, 4p16. The cases reported here highlight the overlapping features of both syndromes, which are dissimilar in mode of inheritance and phenotypic severity, emphasizing the need for genetic analysis, to categorize these conditions.

Genetic analysis of the UPB1 gene in two new Chinese families with β-ureidopropionase deficiency and the carrier frequency of the mutation c.977G>A in Northern China

2014 ◽  
Vol 30 (12) ◽  
pp. 2109-2114 ◽  
Author(s):  
Jianbo Shu ◽  
Xiqian Lv ◽  
Shuzhen Jiang ◽  
Yuqin Zhang ◽  
Chunhua Zhang ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Carrier Frequency ◽  
Northern China ◽  
Chinese Families

scholarly journals Genetic analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism

2020 ◽  
Author(s):  
Chenyang Xu ◽  
Yanbao Xiang ◽  
Huanzheng Li ◽  
Yunzhi Xu ◽  
Yijian Mao ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Genetic Analysis ◽  
Oculocutaneous Albinism ◽  
Chinese Families
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