Article
Characterization of a stapes ankylosis family with a NOG mutation.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology - 1 Mar 2003
Brown David J, Kim Theresa B, Petty Elizabeth M, Downs Catherine A, Martin Donna M, Strouse Peter J, Moroi Sayoko E, Gebarski Stephen S, Lesperance Marci M
Abstract excerpt
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 and radiologic examination, and surgical outcomes. RESULTS:...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.