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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Bibliografische gegevens
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Korean Society of Otorhinolaryngology-Head and Neck Surgery 2009
Onderwerpen:
Case Report
Online toegang: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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