Variable expressivity of <it>FGF3 </it>mutations associated with deafness and LAMM syndrome

<p>Abstract</p> <p>Background</p> <p>Recessive mutations of fibroblast growth factor 3 (FGF3) can cause LAMM syndrome (OMIM 610706), characterized by fully penetrant complete labyrinthine aplasia, microtia and microdontia.</p> <p>Methods</p> <p>We performed a prospective molecular genetic and clinic...

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Bibliografiske detaljer

Principais autores:	Griffith Andrew J, Butman John A, Riazuddin Sheikh, Shaukat Uzma, Nasir Idrees, Khan Shaheen N, Hegde Rashmi S, Ahmed Zubair M, Riazuddin Saima, Friedman Thomas B, Choi Byung
Format:	Artigo
Sprog:	Inglês
Udgivet:	BMC 2011-02-01
Serier:	BMC Medical Genetics
Online adgang:	http://www.biomedcentral.com/1471-2350/12/21
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