SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct

• Main Authors: Janet R. Chao (Author), Parna Chattaraj (Author), Tina Munjal (Author), Keiji Honda (Author), Kelly A. King (Author), Christopher K. Zalewski (Author), Wade W. Chien (Author), Carmen C. Brewer (Author), Andrew J. Griffith (Author)
• Format: Book
• Published: BMC, 2019-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Recessive mutations of coding regions and splice sites of the SLC26A4 gene cause hearing loss with enlargement of the vestibular aqueduct (EVA). Some patients also have a thyroid iodination defect that can lead to multinodular goiter as part of Pendred syndrome. A haplotype of va...