Auditory phenotype of DFNA17.
Lalwani
Anil K
AK
Laboratory of Molecular Otology, Epstein Laboratories, Division of Otology, Neurotology, and Skull Base Surgery, Department of Otolaryngology-Head & Neck Surgery, University of California San Francisco, Calif., USA. lalwani@itsa.ucsf.edu
Goldstein
Jayne A
JA
Mhatre
Anand N
AN
D000293:Adolescent; D000328:Adult; D001301:Audiometry, Pure-Tone; D001309:Auditory Threshold; D002648:Child; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D020409:Molecular Motor Proteins; D020125:Mutation, Missense; D018995:Myosin Heavy Chains / Q000235:genetics*; D017084:Otoacoustic Emissions, Spontaneous; D010375:Pedigree; D010641:Phenotype; D013701:Temporal Bone / Q000473:pathology
C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D018995:Myosin Heavy Chains