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

• Main Authors: Griffith Andrew J (Author), Butman John A (Author), Riazuddin Sheikh (Author), Shaukat Uzma (Author), Nasir Idrees (Author), Khan Shaheen N (Author), Hegde Rashmi S (Author), Ahmed Zubair M (Author), Riazuddin Saima (Author), Friedman Thomas B (Author), Choi Byung (Author)
• Format: Book
• Published: BMC, 2011-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<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>W...