Article Dans Une Revue (Data Paper) Indian Journal of Human Genetics Année : 2007

Mowat-Wilson syndrome in a Moroccan consanguineous family

Résumé

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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Dates et versions

inserm-04136296 , version 1 (21-06-2023)

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Ilham Ratbi, Chafai Siham Elalaoui, Florence Dastot-Le Moal, Michel Goossens, Irina Giurgea, et al.. Mowat-Wilson syndrome in a Moroccan consanguineous family. Indian Journal of Human Genetics, 2007, 13 (3), pp.122. ⟨10.4103/0971-6866.38988⟩. ⟨inserm-04136296⟩

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