Mowat–Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature

Mowat–Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate‐to‐severe mental retardation, epilepsy, Hirschsprung disease, and multiple congenital anomalies, including genital anomalies (p...

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Veröffentlicht in:	American journal of medical genetics. Part A 2009-03, Vol.149A (3), p.417-426
Hauptverfasser:	Garavelli, L., Zollino, M., Mainardi, P. Cerruti, Gurrieri, F., Rivieri, F., Soli, F., Verri, R., Albertini, E., Favaron, E., Zignani, M., Orteschi, D., Bianchi, P., Faravelli, F., Forzano, F., Seri, M., Wischmeijer, A., Turchetti, D., Pompilii, E., Gnoli, M., Cocchi, G., Mazzanti, L., Bergamaschi, R., De Brasi, D., Sperandeo, M.P., Mari, F., Uliana, V., Mostardini, R., Cecconi, M., Grasso, M, Sassi, S., Sebastio, G., Renieri, A., Silengo, M., Bernasconi, S., Wakamatsu, N., Neri, G.
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - diagnosis Abnormalities, Multiple - genetics Adolescent Aging - physiology Biological and medical sciences Child Child, Preschool Chromosomes, Artificial, Bacterial Craniofacial Abnormalities - genetics Dextrans - metabolism facial phenotype Female Fluorescent Dyes - metabolism Gastroenterology. Liver. Pancreas. Abdomen Heterozygote Hirschsprung disease Hirschsprung Disease - genetics Homeodomain Proteins - genetics Humans In Situ Hybridization, Fluorescence Indoles - metabolism Infant Intellectual Disability - genetics Italy Male Malformations Medical genetics Medical sciences Mowat‐Wilson syndrome Mutation Nucleic Acid Hybridization Oligonucleotide Array Sequence Analysis Phenotype Polymerase Chain Reaction Repressor Proteins - genetics Stomach. Duodenum. Small intestine. Colon. Rectum. Anus Syndrome Young Adult ZEB2 Zinc Finger E-box Binding Homeobox 2
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