Mutation analysis of the FRAS1 gene demo
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A. Slavotinek; C. Li; E.H. Sherr; A.E. Chudley
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Article
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2006
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John Wiley and Sons
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English
β 166 KB
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## Abstract Fraser syndrome (OMIM 219000) is a rare, autosomal recessive condition with classical features of cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal, and genitourinary malformations, oral clefting and mental retardation. Mutations causing loss of function of the __FRAS1__ gene