CCDC50
MIM.611051
Pathology
mutation in CCDC50 in autosomal dominant progressive hearing loss DFNA44 (#17503326#)
References
Modamio-Hoybjor S, Mencia A, Goodyear R, Del Castillo I, Richardson G, Moreno F, Moreno-Pelayo MA. A Mutation in CCDC50, a Gene Encoding an Effector of Epidermal Growth Factor-Mediated Cell Signaling, Causes Progressive Hearing Loss. Am J Hum Genet. 2007 Jun;80(6):1076-89. PMID: #17503326#