This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator.
Aim 1. To identify a cohort ofinfantsand childrenwith SNHLand Cx26 mutations.
Aim 1 a: To evaluate the audiologic phenotype of patients with Cx26-related hearing loss and follow their hearing over several years.
Aim1 b: To determine whether temporal bone abnormalities are associated with Cx26 deafness and whether such abnormalities affect the audiologic phenotype.
Aim 2 : To study the experiences and outcomes of patients and families who have pursed genetic testing for deafness.
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