[Current status and perspectives of the research in Pendred syndrome].

Abstract excerpt

Pendred syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss, goiter, and a partial defect in iodide organification, and is the most common syndromic hearing loss. Hearing loss is congenital in most cases and is accompanied by an enlarged vestibular aqueduct and a Mondini cochlea. Pendred syndrome and autosomal recessive deafness-4 (DFNB4) with enlarged vestibular aqueduct...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Hearing Loss, Sensorineural
• Share to Disease Models, Animal
• Share to Forkhead Transcription Factors