“Clouston Hidrotic Ectodermal Dysplasia”, Victor McK­usick, Mendelian Inheritance in Man, 1966. (GJB6)

Genomic coordinate (human 13:20,221,962 GJB6).

Cytoband (human 13q12.11 GJB6).

OMIM’ genes @ 13q12.11 = 22 genes.

ClinVar = 327 GJB6 variants reported.

PANTHER Classification of “connexins 30” is PTHR11984:SF23.

Here I 🎁 present: “Clouston Hidrotic Ectodermal Dysplasia”, Victor McK­usick, Mendelian Inheritance in Man’, 1966. (GJB6)

INTRODUCTION.

Clouston hidrotic ectodermal dysplasia is a medical condition caused by mutations in a connexin-30 gene (GJB6), characterized by scalp hair that is wiry, brittle, and pale. It is often associated with patchy alopecia.