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Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome.
- Source :
-
American journal of medical genetics. Part A [Am J Med Genet A] 2003 Feb 01; Vol. 116A (4), pp. 385-8. - Publication Year :
- 2003
- Subjects :
- Abnormalities, Multiple pathology
DNA genetics
Face abnormalities
Hirschsprung Disease pathology
Humans
Mutation
Syndrome
Zinc Finger E-box Binding Homeobox 2
Abnormalities, Multiple genetics
Hirschsprung Disease genetics
Homeodomain Proteins genetics
Intellectual Disability genetics
Repressor Proteins genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1552-4825
- Volume :
- 116A
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part A
- Publication Type :
- Editorial & Opinion
- Accession number :
- 12522797
- Full Text :
- https://doi.org/10.1002/ajmg.a.10855