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Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4

Authors :
Bondurand, Nadege
Moal, Florence Dastot-Le
Stanchina, Laure
Collot, Nathalie
Baral, Viviane
Marlin, Sandrine
Attie-Bitach, Tania
Giurgea, Irina
Skopinski, Laurent
Reardon, William
Toutain, Annick
Sarda, Pierre
Echaieb, Anis
Lackmy-Port-Lis, Marilyn
Touraine, Renaud
Amiel, Jeanne
Goossens, Michel
Pingault, Veronique
Source :
American Journal of Human Genetics. Dec, 2007, Vol. 81 Issue 6, p1169, 17 p.
Publication Year :
2007

Abstract

Heterozygous deletions are searched using semiquantitative fluorescent multiplex PCR (QMF-PCR) and characterized in patients of Waardenburg syndrome Types 2 and 4. Genes removed by deletions showed neurological phenotypes.

Details

Language :
English
ISSN :
00029297
Volume :
81
Issue :
6
Database :
Gale General OneFile
Journal :
American Journal of Human Genetics
Publication Type :
Academic Journal
Accession number :
edsgcl.175049607