Mowat-Wilson syndrome


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Mowat-Wilson syndrome

An autosomal dominant developmental disorder (OMIM:235730) characterised by mental retardation, delayed motor development, epilepsy, and clinically heterogeneous features suggestive of cephalic, cardiac and vagal neurocristopathies.

Molecular pathology
Defects in ZEB2, which encodes a protein that inhibits E-cadherin transcription, cause Mowat-Wilson syndrome.
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References in periodicals archive ?
(7.) Ratbi I, Elalaoui CS, Dastot-Le MF, Goossens M, Giurgea I, Sefiani A: Mowat-Wilson syndrome in a Moroccan consanguineous family, Indian J Hum Genet.
(8.) Kluk, MJ, An Y, James P, Coulter D, Harris D, Wu, B-L, Shen Y: Case Studies of High-Resolution Array Comparative Genomic Hybridization Testing in the Definitive Diagnosis of Mowat-Wilson Syndrome, J Mol Diagn 2011, 13:363-367.
Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1.