Article
Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.
Nature genetics - 1 Jun 2003
McGregor Lesley, Makela Ville, Darling Susan M, Vrontou Sofia, Chalepakis Georges, Roberts Catherine, Smart Nicola, Rutland Paul, Prescott Natalie, Hopkins Jason, Bentley Elizabeth, Shaw Alison, Roberts Emma, Mueller Robert, Jadeja Shalini, Philip Nicole, Nelson John, Francannet Christine, Perez-Aytes Antonio, Megarbane Andre, Kerr Bronwyn, Wainwright Brandon, Woolf Adrian S, Winter Robin M, Scambler Peter J
Abstract excerpt
Fraser syndrome (OMIM 219000) is a multisystem malformation usually comprising cryptophthalmos, syndactyly and renal defects. Here we report autozygosity mapping and show that the locus FS1 at chromosome 4q21 is associated with Fraser syndrome, although the condition is genetically heterogeneous. Mutation analysis identified five frameshift mutations in FRAS1, which encodes one member of a family of novel...
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