Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients
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 the ZEB2 g...
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| Veröffentlicht in: | Genetics in Medicine 2017-06, Vol.19 (6), p.691-700 |
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| creator | 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 |
| description | 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 the ZEB2 gene. To date, no characteristic pattern of brain dysmorphology in MWS has been defined. |
| format | Article |
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Marcella</au><au>Dobyns, William B</au><au>Paciorkowski, Alex R</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients</atitle><jtitle>Genetics in Medicine</jtitle><date>2017-06</date><risdate>2017</risdate><volume>19</volume><issue>6</issue><spage>691</spage><epage>700</epage><pages>691-700</pages><issn>1098-3600</issn><abstract>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 the ZEB2 gene. To date, no characteristic pattern of brain dysmorphology in MWS has been defined.</abstract><pub>Williams & Wilkins</pub><oa>free_for_read</oa></addata></record> |
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| ispartof | Genetics in Medicine, 2017-06, Vol.19 (6), p.691-700 |
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| language | eng |
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| source | Lirias (KU Leuven Association); EZB-FREE-00999 freely available EZB journals; ProQuest Central UK/Ireland; Alma/SFX Local Collection |
| title | Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients |
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