Article
Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting.
American journal of human genetics - 15 Jul 2011
Saadi Irfan, Alkuraya Fowzan S, Gisselbrecht Stephen S, Goessling Wolfram, Cavallesco Resy, Turbe-Doan Annick, Petrin Aline L, Harris James, Siddiqui Ursela, Grix Arthur W, Hove Hanne D, Leboulch Philippe, Glover Thomas W, Morton Cynthia C, Richieri-Costa Antonio, Murray Jeffrey C, Erickson Robert P, Maas Richard L
Abstract excerpt
Genetic mutations responsible for oblique facial clefts (ObFC), a unique class of facial malformations, are largely unknown. We show that loss-of-function mutations in SPECC1L are pathogenic for this human developmental disorder and that SPECC1L is a critical organizer of vertebrate facial morphogenesis. During murine embryogenesis, Specc1l is expressed in cell populations of the developing facial primordial,...
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