Article
MEF2C deletions and mutations versus duplications: a clinical comparison.
European journal of medical genetics - 1 May 2013
Novara Francesca, Rizzo Ambra, Bedini Gloria, Girgenti Vita, Esposito Silvia, Pantaleoni Chiara, Ciccone Roberto, Sciacca Francesca L, Achille Valentina, Della Mina Erika, Gana Simone, Zuffardi Orsetta, Estienne Margherita
Abstract excerpt
5q14.3 deletions including the MEF2C gene have been identified to date using genomic arrays in patients with severe developmental delay or intellectual disability, stereotypic behavior, epilepsy, cerebral malformations and a facial gestalt not really distinctive though characterized by broad and/or high, bulging forehead, upslanting palpebral fissures, flat nasal root and bridge, small, upturned nose, hypotonic...
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