Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity

Author:

Blons H,Feldmann D,Duval V,Messaz O,Denoyelle F,Loundon N,Sergout-Allaoui A,Houang M,Duriez F,Lacombe D,Delobel B,Leman J,Catros H,Journel H,Drouin-Garraud V,Obstoy M-F,Toutain A,Oden S,Toublanc JE,Couderc R,Petit C,Garabédian E-N,Marlin S

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference30 articles.

1. Deaf-mutism and goitre;Pendred;Lancet,1896

2. Pitfalls in practive-diagnosis and misdiagnosis in Pendred syndrome;Readon;J Audiol Med,1997

3. Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome;Reardon;J Med Genet,1999

4. Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation;Masmoudi;Am J Med Genet,2000

5. Association of congenital deafness with goiter (Pendred's syndrome). A study of 207 families;Fraser;Ann Hum Genet,1965

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