Article
Clinical characteristics and genotype-phenotype correlation of hearing loss patients with SLC26A4 mutations.
Acta oto-laryngologica - 1 Dec 2007
Suzuki Hiroaki, Oshima Aki, Tsukamoto Koji, Abe Satoko, Kumakawa Kozo, Nagai Kyoko, Satoh Hitoshi, Kanda Yukihiko, Iwasaki Satoshi, Usami Shin-ichi
Abstract excerpt
CONCLUSIONS: The present study confirmed the clinical characteristics of patients with SLC26A4 mutations: congenital, fluctuating, and progressive hearing loss usually associated with vertigo and/or goiter during long-term follow-up. This clarification should help to facilitate appropriate genetic counseling and proper medical management for patients with these mutations, but there was no particular...
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