A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia
Abstract 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...
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| Hlavní autoři: | , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BMC
2020-08-01
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| Edice: | Hereditas |
| Témata: | |
| On-line přístup: | http://link.springer.com/article/10.1186/s41065-020-00148-8 |
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