Article
Novel mutations in LRTOMT associated with moderate progressive hearing loss in autosomal recessive inheritance.
The Annals of otology, rhinology, and laryngology - 1 May 2015
Ichinose Aya, Moteki Hideaki, Hattori Mitsuru, Nishio Shin-Ya, Usami Shin-Ichi
Abstract excerpt
OBJECTIVE: We present a patient who was identified with novel mutations in the LRTOMT gene and describe the clinical features of the phenotype including serial audiological findings. METHODS: One hundred six Japanese patients with mild to moderate sensorineural hearing loss from unrelated and nonconsanguineous families were enrolled in the study. Targeted genomic enrichment and massively parallel sequencing of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
