Article
Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1.
American journal of medical genetics. Part A - 1 Feb 2007
Cavalcanti Denise Pontes, Matejas Verena, Luquetti Daniela, Mello Marcos Fernando, Zenker Martin
Abstract excerpt
To date, Fraser syndrome (FS) and Ablepharon macrostomia syndrome (AMS) have been considered distinct disorders, but they share strikingly similar patterns of congenital abnormalities, specifically craniofacial anomalies. While recent research has led to the identification of the genes FRAS1 and FREM2 as the cause of FS, the genetic basis of AMS continues to be enigmatic. We report on the concurrence of AMS-like...
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