Article
Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).
American journal of human genetics - 1 Jun 2007
Yang Tao, Vidarsson Hilmar, Rodrigo-Blomqvist Sandra, Rosengren Sally S, Enerback Sven, Smith Richard J H
Abstract excerpt
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 SLC26A4 coding region in one or both alleles. We have identified and characterized a key transcriptional regulatory...
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