Article
Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology.
The British journal of dermatology - 1 Jul 2012
Clements S E, Techanukul T, Lai-Cheong J E, Mee J B, South A P, Pourreyron C, Burrows N P, Mellerio J E, McGrath J A
Abstract excerpt
BACKGROUND: AEC (ankyloblepharon-ectodermal defects-clefting) syndrome is an autosomal dominant ectodermal dysplasia disorder caused by mutations in the transcription factor p63. Clinically, the skin is dry and often fragile; other features can include partial eyelid fusion (ankyloblepharon), hypodontia, orofacial clefting, sparse hair or alopecia, and nail dystrophy. OBJECTIVES: To investigate how p63 gene...
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