A novel mutation in the pendrin gene associated with Pendred's syndrome
- 1 March 2000
- journal article
- research article
- Published by Wiley in Clinical Endocrinology
- Vol. 52 (3) , 279-285
- https://doi.org/10.1046/j.1365-2265.2000.00930.x
Abstract
OBJECTIVE Pendred's syndrome is an autosomal recessive disorder characterized by goitre, sensorineural deafness and iodide organification defect. It is one of the most frequent causes of congenital ...Keywords
This publication has 13 references indexed in Scilit:
- The Pendred syndrome gene encodes a chloride-iodide transport proteinNature Genetics, 1999
- Two Frequent Missense Mutations in Pendred SyndromeHuman Molecular Genetics, 1998
- Molecular Analysis of the Pds Gene in Pendred Syndrome (Sensorineural Hearing Loss and Goitre)Human Molecular Genetics, 1998
- Radiological malformations of the ear in pendred syndromeClinical Radiology, 1998
- A mutation in PDS causes non-syndromic recessive deafnessNature Genetics, 1998
- Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)Nature Genetics, 1997
- Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organificationNature Genetics, 1996
- Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4Nature Genetics, 1996
- Genetic epidemiological studies of early‐onset deafness in the U.S. school‐age populationAmerican Journal of Medical Genetics, 1993
- ASSOCIATION OF CONGENITAL DEAFNESS WITH GOITRE THE NATURE OF THE THYROID DEFECTThe Lancet, 1958