Article
Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders.
American journal of medical genetics. Part A - 1 Dec 2013
Schanze Denny, Harakalova Magdalena, Stevens Cathy A, Brancati Francesco, Dallapiccola Bruno, Farndon Peter, Ferraz Victor E F, McDonald-McGinn Donna M, Zackai Elaine H, Wright Michael, van Lieshout Stef, Vogel Maartje J, van Haelst Mieke M, Zenker Martin
Abstract excerpt
Ablepharon macrostomia syndrome (AMS; OMIM 200110) is an extremely rare congenital malformation syndrome. It overlaps clinically with Fraser syndrome (FS; OMIM 219000), which is known to be caused by mutations in either FRAS1, FREM2, or GRIP1, encoding components of a protein complex that plays a role in epidermal-dermal interactions during morphogenetic processes. We explored the hypothesis that AMS might be...
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