Characterization of a stapes ankylosis family with a NOG mutation.


OBJECTIVE To characterize the otologic phenotype in a family with autosomal dominant stapes ankylosis, hyperopia, and skeletal abnormalities caused by a mutation in the noggin gene (NOG). STUDY DESIGN Case series. SETTING Academic tertiary care center. PATIENTS Eight affected and 3 unaffected family members. MAIN OUTCOME MEASURES History, physical… (More)