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Article

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

Hereditas - 25 Aug 2020

Zhan Yi, Luo Shuaihantian, Pi Zixin, Zhang Guiying

Abstract excerpt

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 populations. Here, we reported a big Chinese family in which 24 patients over five generations were suffered with...

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Identifiers

PMID: 32843087
DOI: 10.1186/s41065-020-00148-8
PMCID: PMC7446134

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