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Molecular study of 33 families with Fraser syndrome new data and mutation review

✍ Scribed by M.M. van Haelst; M. Maiburg; G. Baujat; S. Jadeja; E. Monti; E. Bland; K. Pearce; R.C. Hennekam; P.J. Scambler


Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
221 KB
Volume
146A
Category
Article
ISSN
1552-4825

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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

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