Suna Tokgöz-Yılmaz Sanem Sahlı Suat Fitoz Gonca Sennaroğlu Mustafa Tekin
10.1016/j.ijporl.2010.12.004
Int J Pediatr Otorhinolaryngol
2011 Mar;75(3):433-7.
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/21208667/
Collagen Type XI / genetics Hearing Loss, Sensorineural / diagnosis Hearing Loss, Sensorineural / genetics
Collagen Type XI / genetics Hearing Loss, Sensorineural / diagnosis Hearing Loss, Sensorineural / genetics Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Abnormalities, Multiple / genetics Audiometry Auditory Threshold Child, Preschool Dwarfism Evoked Potentials, Auditory, Brain Stem Humans Male Mutation Osteochondrodysplasias / genetics Otoacoustic Emissions, Spontaneous Speech Intelligibility Spinal Diseases / genetics COL11A2 protein, human Collagen Type XI Megaepiphyseal dwarfism
PMC3040286
21208667
Audiological findings in otospondylomegaepiphyseal dysplasia (OSMED) associated with a novel mutation in COL11A2
2011