Article
Mutations in GRIP1 cause Fraser syndrome.
Journal of medical genetics - 1 May 2012
Vogel Maartje J, van Zon Patrick, Brueton Louise, Gijzen Marleen, van Tuil Marc C, Cox Phillip, Schanze Denny, Kariminejad Ariana, Ghaderi-Sohi Siavash, Blair Edward, Zenker Martin, Scambler Peter J, Ploos van Amstel Hans Kristian, van Haelst Mieke M
Abstract excerpt
BACKGROUND: Fraser syndrome (FS) is a autosomal recessive malformation syndrome characterised by cryptophthalmos, syndactyly and urogenital defects. FS is a genetically heterogeneous condition. Thus far, mutations in FRAS1 and FREM2 have been identified as cause of FS. Both FRAS1 and FREM2 encode extracellular matrix proteins that are essential for the adhesion between epidermal basement membrane and the...
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