Article
Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome.
American journal of human genetics - 4 Sept 2014
Petrof Gabriela, Nanda Arti, Howden Jake, Takeichi Takuya, McMillan James R, Aristodemou Sophia, Ozoemena Linda, Liu Lu, South Andrew P, Pourreyron Celine, Dafou Dimitra, Proudfoot Laura E, Al-Ajmi Hejab, Akiyama Masashi, McLean W H Irwin, Simpson Michael A, Parsons Maddy, McGrath John A
Abstract excerpt
Grainyhead-like 2, encoded by GRHL2, is a member of a highly conserved family of transcription factors that play essential roles during epithelial development. Haploinsufficiency for GRHL2 has been implicated in autosomal-dominant deafness, but mutations have not yet been associated with any skin pathology. We investigated two unrelated Kuwaiti families in which a total of six individuals have had lifelong...
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