Amelogenesis imperfecta in two families with defined AMELX deletions in ARHGAP6.

Amelogenesis imperfecta (AI) is a group of inherited conditions featuring isolated enamel malformations. About 5% of AI cases show an X-linked pattern of inheritance, which are caused by mutations in AMELX. In humans there are two, non-allelic amelogenin genes: AMELX (Xp22.3) and AMELY (Yp11.2). Abo...

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Bibliographic Details
Main Authors: Jan C-C Hu, Hui-Chen Chan, Stephen G Simmer, Figen Seymen, Amelia S Richardson, Yuanyuan Hu, Rachel N Milkovich, Ninna M R P Estrella, Mine Yildirim, Merve Bayram, Chiung-Fen Chen, James P Simmer
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2012-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3522662?pdf=render