Mutation Analysis of SLC26A4 for Pendred Syndrome and Nonsyndromic Hearing Loss by High-Resolution Melting
Author:
Publisher
Elsevier BV
Subject
Molecular Medicine,Pathology and Forensic Medicine
Reference52 articles.
1. Association of congenital deafness with goitre (Pendred's syndrome): a study of 207 families;Fraser;Ann Hum Genet,1965
2. SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities;Pryor;J Med Genet,2005
3. A mutation in PDS causes non-syndromic recessive deafness;Li;Nat Genet,1998
4. Pendred syndrome/DFNB4;Smith,1993
5. Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4);Scott;Hum Mol Genet,2000
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