Article
Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome.
BMC medical genetics - 9 Feb 2011
Riazuddin Saima, Ahmed Zubair M, Hegde Rashmi S, Khan Shaheen N, Nasir Idrees, Shaukat Uzma, Riazuddin Sheikh, Butman John A, Griffith Andrew J, Friedman Thomas B, Choi Byung Yoon
Abstract excerpt
BACKGROUND: Recessive mutations of fibroblast growth factor 3 (FGF3) can cause LAMM syndrome (OMIM 610706), characterized by fully penetrant complete labyrinthine aplasia, microtia and microdontia. METHODS: We performed a prospective molecular genetic and clinical study of families segregating hearing loss linked to FGF3 mutations. Ten affected individuals from three large Pakistani families segregating FGF3...
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