Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.

Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.

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. Mu...

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Bibliographic Details
Main Authors: McGregor, L, Makela, V, Darling, S, Vrontou, S, Chalepakis, G, Roberts, C, Smart, N, Rutland, P, Prescott, N, Hopkins, J, Bentley, E, Shaw, A, Roberts, E, Mueller, R, Jadeja, S, Philip, N, Nelson, J, Francannet, C, Perez-Aytes, A, Megarbane, A, Kerr, B, Wainwright, B, Woolf, A, Winter, R, Scambler, P
Format: Journal article
Language:English
Published: 2003

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