Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of hirschsprung disease
Open Access
- 3 June 2003
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 124A (1), 102-104
- https://doi.org/10.1002/ajmg.a.20298
Abstract
No abstract availableThis publication has 6 references indexed in Scilit:
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- Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung diseaseHuman Molecular Genetics, 2001
- Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung diseaseNature Genetics, 2001
- Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.Journal of Medical Genetics, 1998