This gene is located in the 13q11 region, which is associated with the genetic diseases Clouston hidrotic ectodermal dysplasia and Kabuki syndrome.
2.
"' Clouston's hidrotic ectodermal dysplasia "'( also known as " Alopecia congenita with keratosis palmoplantaris, " " Clouston syndrome, " " Fischer Jacobsen Clouston syndrome, " " Hidrotic ectodermal dysplasia, " " Keratosis palmaris with drumstick fingers, " and " Palmoplantar keratoderma and clubbing " ) is caused by mutations in a connexin gene, GJB6 or connexin-30, characterized by scalp hair that is wiry, brittle, and pale, often associated with patchy alopecia.
3.
"' Clouston's hidrotic ectodermal dysplasia "'( also known as " Alopecia congenita with keratosis palmoplantaris, " " Clouston syndrome, " " Fischer Jacobsen Clouston syndrome, " " Hidrotic ectodermal dysplasia, " " Keratosis palmaris with drumstick fingers, " and " Palmoplantar keratoderma and clubbing " ) is caused by mutations in a connexin gene, GJB6 or connexin-30, characterized by scalp hair that is wiry, brittle, and pale, often associated with patchy alopecia.
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