SLC26A4 mutation testing for hearing loss associated with enlargement of the vestibular aqueduct

Pendred syndrome (PS) is characterized by autosomal recessive inheritance of goiter associated with a defect of iodide organification, hearing loss, enlargement of the vestibular aqueduct (EVA), and mutations of the SLC26A4 gene. However, not all EVA patients have PS or SLC26A4 mutations. Two mutant...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:World J Otorhinolaryngol
Main Authors: Ito, Taku, Muskett, Julie, Chattaraj, Parna, Choi, Byung Yoon, Lee, Kyu Yup, Zalewski, Christopher K, King, Kelly A, Li, Xiangming, Wangemann, Philine, Shawker, Thomas, Brewer, Carmen C, Alper, Seth L, Griffith, Andrew J
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4423814/
https://ncbi.nlm.nih.gov/pubmed/25960948
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5319/wjo.v3.i2.26
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados