A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia

Hidrotic ectodermal dysplasia (HED) is a rare inherited syndrome characterised by nail dystrophy, palmoplantar hyperkeratosis and alopecia. Four mutations (p.G11R, p.A88V, p.V37E and p.D50N) in gap junction beta 6 (GJB6) gene, which codes connexin30 protein, have been found to cause HED in different...

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Detalles Bibliográficos
Autores principales: Zhan, Yi, Luo, Shuaihantian, Pi, Zixin, Zhang, Guiying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7446134/
https://www.ncbi.nlm.nih.gov/pubmed/32843087
http://dx.doi.org/10.1186/s41065-020-00148-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7446134/
https://www.ncbi.nlm.nih.gov/pubmed/32843087
http://dx.doi.org/10.1186/s41065-020-00148-8

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