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Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
ISSN: 0971-6866
EISSN: 0971-6866
Vol. 13, No. 3, 2007, pp. 122-124
Bioline Code: hg07028
Full paper language: English
Document type: Case Report
Document available free of charge

Indian Journal of Human Genetics, Vol. 13, No. 3, 2007, pp. 122-124

 en Mowat-Wilson syndrome in a Moroccan consanguineous family
Ratbi, Ilham; Elalaoui, ChafaiSiham; Dastot-Le, Moal Florence; Goossens, Michel; Giurgea, Irina & Sefiani, Abdelaziz


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.

Dysmorphia, Mowat-Wilson syndrome, severe mental retardation, ZFHX1B gene

© Copyright 2007 Indian Journal of Human Genetics.
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