A Family of H723R Mutation for SLC26A4 Associated with Enlarged Vestibular Aqueduct Syndrome

Recessive mutations of the SLC26A4 (PDS) gene on chromosome 7q31 can cause sensorineural deafness with goiter (Pendred syndrome, OMIM 274600) or NSRD with goiter (at the DFNB4 locus, OMIM 600791). H723R (2168A>G) is the most commonly reported SLC26A4 mutations in Korean and Japanese and known as...

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Autori principali: Kim, SungHee, Song, Dae Gun, Bae, Jae Woong, Choi, Soo-Young, Kim, Un-Kyung, Choi, Young Jun, Lee, Kyu Yup, Lee, Sang Heun, Lee, Jung Rae
Natura: Artigo
Lingua:Inglês
Pubblicazione: Korean Society of Otorhinolaryngology-Head and Neck Surgery 2009
Soggetti:
Case Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2702731/
https://ncbi.nlm.nih.gov/pubmed/19565036
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3342/ceo.2009.2.2.100
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