Výsledky vyhledávání - "Shao Xiong Wang"

Akademický článek

Identification of a novel pathogenic variant in the MYH3 gene in a five‐generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A)

Autor: Jing Zhang, Wen‐Qi Chen, Si‐Wen Wang, Shao‐Xiong Wang, Mei Yu, Qing Guo, Ya‐Dong Yu

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)

Abstract Background Distal arthrogryposis (DA) is a group of rare Mendelian conditions that demonstrate heterogeneity with respect to genetics and phenotypes. Ten types of DAs, which collectively involve six genes, have been reported. Among them, the

Externí odkaz: https://doaj.org/article/d3667569b42340eeb2569fdaac683c21

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Identification of a novel pathogenic variant in the MYH3 gene in a five‐generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A)

Autor: Si‐Wen Wang, Wen-Qi Chen, Shao‐Xiong Wang, Ya‐Dong Yu, Qing Guo, Mei Yu, Jing Zhang

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine

Background Distal arthrogryposis (DA) is a group of rare Mendelian conditions that demonstrate heterogeneity with respect to genetics and phenotypes. Ten types of DAs, which collectively involve six genes, have been reported. Among them, the MYH3 gen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8f15c3307ee37267ee175e1e3afb87e
https://doi.org/10.1002/mgg3.1440

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