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 ?
Garavelli L, Cerruti Mainardi P: Review: Mowat-Wilson syndrome.
Adam MP, Bean LJH, Ranger Miller V: Mowat-Wilson Syndrome.
Sasongko TH, Sadewa AH, Lee MJ, Koterazawa K, Nishio H: Nonsense Mutations of the ZFHX1B Gene in Two Japanese Girls with Mowat-Wilson Syndrome.
Mowat DR, Wilson MJ, Goossens M: Mowat-Wilson Syndrome.
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.
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.
Zweier C, Temple IK, Beemer F, Zackai E, Lerman-Sagie T, Weschke B, Anderson CE, Rauch A: Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome.