Article
A homozygous frameshift mutation in the HOXC13 gene underlies pure hair and nail ectodermal dysplasia in a Syrian family.
Human mutation - 1 Apr 2013
Farooq Muhammad, Kurban Mazen, Fujimoto Atsushi, Fujikawa Hiroki, Abbas Ossama, Nemer Georges, Saliba Jessica, Sleiman Rima, Tofaili Mona, Kibbi Abdul-Ghani, Ito Masaaki, Shimomura Yutaka
Abstract excerpt
Pure hair and nail ectodermal dysplasia (PHNED) is a rare genetic disorder characterized by hypotrichosis or complete alopecia, as well as nail dystrophy. Mutations in the type II hair keratin gene KRT85 and the HOXC13 gene on chromosome 12q have recently been identified in families with autosomal-recessive PHNED. In the present study, we have analyzed a consanguineous Syrian family with an affected girl having...
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