Further delineation of the phenotype associated with heterozygous mutations inZFHX1B

Author:

Wilson Meredith,Mowat David,Dastot-Le Moal Florence,Cacheux Valère,Kääriäinen Helena,Cass Danny,Donnai Dian,Clayton-Smith Jill,Townshend Sharron,Curry Cynthia,Gattas Michael,Braddock Stephen,Kerr Bronwyn,Aftimos Salim,Zehnwirth Harry,Barrey Catherine,Goossens Michel

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference30 articles.

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3. Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with midline structure involvement;Amiel;Am J Hum Genet,2001

4. A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome);Brooks;J Med Genet,1999

5. Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease;Cacheux;Hum Mol Genet,2001

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