Neurological Phenotype in Waardenburg Syndrome Type 4 Correlates with Novel SOX10 Truncating Mutations and Expression in Developing Brain-Reference-Cited by-同舟云学术

Neurological Phenotype in Waardenburg Syndrome Type 4 Correlates with Novel SOX10 Truncating Mutations and Expression in Developing Brain

Published:2000-05 Issue:5 Volume:66 Page:1496-1503
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

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

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

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3. A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus;Bolk;Proc Natl Acad Sci USA,2000

4. Expression of the SOX10 gene during human development;Bondurand;FEBS Lett,1998

5. Hirschsprung's disease and Waardenburg's syndrome;Branski;Pediatrics,1979

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