Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

Purpose: Mowat–Wilson syndrome (MWS) is a genetic disease characterized by distinctive facial features, moderate to severe intellectual disability, and congenital malformations, including Hirschsprung disease, genital and eye anomalies, and congenital heart defects, caused by haploinsufficiency of t...

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Veröffentlicht in:	Genetics in medicine 2017-06, Vol.19 (6), p.691-700
Hauptverfasser:	Garavelli, Livia, Ivanovski, Ivan, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, Pollazzon, Marzia, Cordelli, Duccio Maria, Abdalla, Ebtesam, Accorsi, Patrizia, Adam, Margaret P., Baldo, Chiara, Bayat, Allan, Belligni, Elga, Bonvicini, Federico, Breckpot, Jeroen, Callewaert, Bert, Cocchi, Guido, Cuturilo, Goran, Devriendt, Koenraad, Dinulos, Mary Beth, Djuric, Olivera, Epifanio, Roberta, Faravelli, Francesca, Formisano, Debora, Giordano, Lucio, Grasso, Marina, Grønborg, Sabine, Iodice, Alessandro, Iughetti, Lorenzo, Lacombe, Didier, Maggi, Massimo, Malbora, Baris, Mammi, Isabella, Moutton, Sebastien, Møller, Rikke, Muschke, Petra, Napoli, Manuela, Pantaleoni, Chiara, Pascarella, Rosario, Pellicciari, Alessandro, Poch-Olive, Maria Luisa, Raviglione, Federico, Rivieri, Francesca, Russo, Carmela, Savasta, Salvatore, Scarano, Gioacchino, Selicorni, Angelo, Silengo, Margherita, Sorge, Giovanni, Tarani, Luigi, Tone, Luis Gonzaga, Toutain, Annick, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Zanotta, Nicoletta, Zollino, Marcella, Dobyns, William B, Paciorkowski, Alex R
Format:	Artikel
Sprache:	eng
Schlagworte:	631/208/2489/144 631/378/2571 692/699 692/700/1421/1628 Biomedical and Life Sciences Biomedicine Brain - diagnostic imaging Brain - pathology Child Child, Preschool Cohort Studies Epilepsy - pathology Facies Female Genotype Haploinsufficiency Hirschsprung Disease - diagnostic imaging Hirschsprung Disease - genetics Hirschsprung Disease - pathology Human Genetics Humans Infant Intellectual Disability - diagnostic imaging Intellectual Disability - genetics Intellectual Disability - pathology Laboratory Medicine Longitudinal Studies Magnetic Resonance Imaging Male Microcephaly - diagnostic imaging Microcephaly - genetics Microcephaly - pathology Neuroimaging Original original-research-article Phenotype Zinc Finger E-box Binding Homeobox 2 - genetics
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