Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain

American Journal of Human Genetics

Volumn 66, Issue 5, 2000, Pages 1496-1503

  Touraine, Renaud L ^a   Attié Bitach, Tania ^a   Manceau, Eric ^b   Korsch, Eckhard ^c   Sarda, Pierre ^d   Pingault, Véronique ^e   Encha Razavi, Féréchté ^a   Pelet, Anna ^a   Augé, Joelle ^a   Nivelon Chevallier, Annie ^b   Holschneider, Alexander Mathias ^c   Munnes, Marc ^c   Doerfler, Walter ^c   Goossens, Michel ^d   Munnich, Arnold ^a   Vekemans, Michel ^a   Lyonnet, Stanislas ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b Medical University of Dijon   (France)

^c UNIVERSITY OF COLOGNE   (Germany)

^d HÔPITAL ARNAUD DE VILLENEUVE   (France)

^e HENRI MONDOR HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTHROGRYPOSIS; ARTICLE; AUTONOMIC NEUROPATHY; BRAIN DEVELOPMENT; CASE REPORT; CENTRAL NERVOUS SYSTEM DISEASE; CHILD; DNA DETERMINATION; EMBRYO DEVELOPMENT; FETUS; FETUS DEVELOPMENT; GENE EXPRESSION; GENE MUTATION; GROWTH RETARDATION; HUMAN; MUSCLE HYPOTONIA; NEURAL CREST CELL; NEUROLOGIC DISEASE; NEWBORN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; WAARDENBURG SYNDROME;

EID: 0033927518     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302895     Document Type: Article

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