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Fraser Syndrome

More information in Books or onNLM PubMed
Definition: Rare autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, SYNDACTYLY and UROGENITAL ABNORMALITIES. Other anomalies of bone, ear, lung, and nose are common. Mutations on FRAS1 and FREM2 are associated with the syndrome.  do not confuse with FRASIER SYNDROME   
See Also Frasier Syndrome 		Other names Syndrome, Fraser; Syndrome, Cryptophthalmos-Syndactyly; Cryptophthalmos-Syndactyly Syndromes; Cryptophthalmos Syndactyly Syndrome; Cryptophthalmos-Syndactyly Syndrome; Cryptophthalmos with Other Malformations
 
SubstanceCAS Registry & nameCategoriesSource
FREM2 protein, human  0   *Extracellular Matrix Proteins Fraser Syndrome. Nat Genet 2005 May;37(5):520-5
FRAS1 protein, human  0   *Extracellular Matrix Proteins Fraser Syndrome. Nat Genet 2003 Jun;34(2):203-8

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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