Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families

BACKGROUND: Distal arthrogryposis (DA) is a group of clinically and genetically heterogeneous disorders that involve multiple congenital limb contractures and comprise at least 10 clinical subtypes. Here, we describe our findings in two Chinese families: Family 1 with DA2B (MIM 601680) and Family 2...

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Detalles Bibliográficos
Autores principales: Li, Shan, You, Yi, Gao, Jinsong, Mao, Bin, Cao, Yixuan, Zhao, Xiuli, Zhang, Xue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6171138/
https://www.ncbi.nlm.nih.gov/pubmed/30285720
http://dx.doi.org/10.1186/s12881-018-0692-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6171138/
https://www.ncbi.nlm.nih.gov/pubmed/30285720
http://dx.doi.org/10.1186/s12881-018-0692-8

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