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Transcriptional Control of SLC26A4 Is Involved in Pendred Syndrome and Nonsyndromic Enlargement of Vestibular Aqueduct (DFNB4)

Although recessive mutations in the anion transporter gene SLC26A4 are known to be responsible for Pendred syndrome (PS) and nonsyndromic hearing loss associated with enlarged vestibular aqueduct (EVA), also known as “DFNB4,” a large percentage of patients with this phenotype lack mutations in the S...

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Détails bibliographiques
Auteurs principaux: Yang, Tao , Vidarsson, Hilmar , Rodrigo-Blomqvist, Sandra , Rosengren, Sally S. , Enerbäck, Sven , Smith, Richard J. H. 
Format: Artigo
Langue:Inglês
Publié: The American Society of Human Genetics 2007
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1867094/
https://ncbi.nlm.nih.gov/pubmed/17503324
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