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A Family of H723R Mutation for SLC26A4 Associated with Enlarged Vestibular Aqueduct Syndrome
SungHee Kim, Dae Gun Song, Jae Woong Bae, Soo-Young Choi, Un-Kyung Kim, Young Jun Choi, Kyu Yup Lee, Sang Heun Lee, Jung Rae Lee
Clinical and Experimental Otorhinolaryngology. 2009;2(2):100-102.   Published online 2009 June 29    DOI: https://doi.org/10.3342/ceo.2009.2.2.100

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A Family of H723R Mutation for SLC26A4 Associated with Enlarged Vestibular Aqueduct Syndrome
Clinical and Experimental Otorhinolaryngology. 2009;2(2):100   Crossref logo
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A novel missense mutation in the SLC26A4 gene in a chinese family with enlarged vestibular aqueducts
. 2022;   Crossref logo
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Subgroups of enlarged vestibular aqueduct in relation toSLC26A4mutations and hearing loss
The Laryngoscope. 2013;124(4):E134-E140   Crossref logo
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Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum
Journal of Human Genetics. 2007;52(6):492-497   Crossref logo
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Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome
BMC Medical Genetics. 2013;14(1):   Crossref logo
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Prevalent SLC26A4 Mutations in Patients with Enlarged Vestibular Aqueduct and/or Mondini Dysplasia: A Unique Spectrum of Mutations in Taiwan, Including a Frequent Founder Mutation
The Laryngoscope. 2005;115(6):1060-1064   Crossref logo
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Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese
European Journal of Human Genetics. 2003;11(12):916-922   Crossref logo
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Mutations of KCNJ10 Together with Mutations of SLC26A4 Cause Digenic Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct Syndrome
The American Journal of Human Genetics. 2009;84(5):651-657   Crossref logo
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Enlarged vestibular aqueduct: Review of controversial aspects
The Laryngoscope. 2011;121(9):1971-1978   Crossref logo
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Preimplantation Genetic Diagnosis (Embryo Screening) for Enlarged Vestibular Aqueduct due to <i>SLC26A4</i> Mutation
Audiology and Neurotology. 2010;15(5):311-317   Crossref logo
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