Mutation in the COCH gene is associated with superior semicircular canal dehiscence.
Hildebrand
Michael S
MS
Department of Otolaryngology, Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA. michael-hildebrand@uiowa.edu
Tack
Dylan
D
Deluca
Adam
A
Hur
In Ae
IA
Van Rybroek
Jana M
JM
McMordie
Sarah J
SJ
Muilenburg
Ann
A
Hoskinson
David P
DP
Van Camp
Guy
G
Pensak
Myles L
ML
Storper
Ian S
IS
Huygen
Patrick L M
PL
Casavant
Thomas L
TL
Smith
Richard J H
RJ
D017668:Age of Onset; D001299:Audiometry; D004252:DNA Mutational Analysis; D016326:Extracellular Matrix Proteins; D005192:Family Health; D034381:Hearing Loss / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D012665:Semicircular Canals / Q000473:pathology*
C110668:COCH protein, human; D016326:Extracellular Matrix Proteins; D011506:Proteins