Article
Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6) family.
Hearing research - 1 Dec 2011
Weegerink N J D, Huygen P L M, Schraders M, Kremer H, Pennings R J E, Kunst H P M
Abstract excerpt
OBJECTIVE: Investigation of the audiometric characteristics of a large Dutch DFNX4 family with a p.Glu72X mutation in the SMPX gene. PATIENTS AND METHODS: Sixty family members participated in this study and examination consisted of medical history, otoscopy, pure tone and speech audiometry. Linkage and mutation analysis revealed a pathogenic mutation in the SMPX gene. RESULTS: All 25 mutation carriers exhibited...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.