Review and update of mutations causing Waardenburg syndrome

Human Mutation

Volumn 31, Issue 4, 2010, Pages 391-406

  Pingault, Véronique ^a,b,c   Ente, Dorothée ^c   Dastot Le Moal, Florence ^a,c   Goossens, Michel ^a,b,c   Marlin, Sandrine ^d   Bondurand, Nadège ^a,b  

^a INSERM U955   (France)

^b FACULTÉ DE MÉDECINE   (France)

^c HENRI MONDOR HOSPITAL   (France)

^d ARMAND TROUSSEAU HOSPITAL   (France)

Author keywords

EDN3; EDNRB; MITF; PAX3; SNAI2; SOX10; Waardenburg syndrome

Indexed keywords

ENDOTHELIN 3; ENDOTHELIN B RECEPTOR; MICROPHTHALMIA ASSOCIATED TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR PAX3; TRANSCRIPTION FACTOR SLUG; TRANSCRIPTION FACTOR SOX10;

CLINICAL FEATURE; DIAGNOSTIC VALUE; DISEASE CLASSIFICATION; GENE DELETION; GENE FREQUENCY; GENE MUTATION; HUMAN; IN FRAME DELETION; MISSENSE MUTATION; PRIORITY JOURNAL; REVIEW; SPLICE MUTATION; TIETZE SYNDROME; WAARDENBURG SYNDROME;

GASTROPODA; NEMOPHILA; PSEUDOMUGILIDAE;

EID: 77950389859     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21211     Document Type: Review

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