Mowat-Wilson syndrome in a Moroccan consanguineous family.
Indian J Hum Genet
; 13(3): 122-4, 2007 Sep.
Article
en En
| MEDLINE
| ID: mdl-21957361
ABSTRACT
Mowat-Wilson syndrome is a mental retardation-multiple congenital anomaly syndrome characterized by a typical facies, developmental delay, epilepsy, and variable congenital malformations, including Hirschsprung disease, urogenital anomalies, congenital heart disease, and agenesis of the corpus callosum. This disorder is sporadic and is caused by heterozygous mutations or deletions of the ZFHX1B gene located in the 2q22 region. We report here the first Moroccan patient, born to consanguineous parents, with Mowat-Wilson syndrome, due to a de novo, unreported mutation of the ZFHX1B gene.
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MEDLINE
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En
Revista:
Indian J Hum Genet
Año:
2007
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Article
País de afiliación:
Marruecos