A TNNI2 variant c.525G>T causes distal arthrogryposis in a Chinese family

BACKGROUND: Distal arthrogryposis (DA) is a group of congenital autosomal‐dominant disorders secondary to defects in joint and muscle function, characterized by multiple joint contractures of the hands and feet. DA can be divided into 10 types according to clinical features. DA has been confirmed to...

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Detalles Bibliográficos
Autores principales: Li, Yue, Nong, Tianying, Li, Yiqiang, Li, Xia, Li, Zhaohui, Lv, Hui, Xu, Hongwen, Li, Jingchun, Zhu, Mingwei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9747562/
https://www.ncbi.nlm.nih.gov/pubmed/36069346
http://dx.doi.org/10.1002/mgg3.2042

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9747562/
https://www.ncbi.nlm.nih.gov/pubmed/36069346
http://dx.doi.org/10.1002/mgg3.2042

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