TY - JOUR TI - Mowat-Wilson'S Syndrome: A Case Report PB - Sociedad Chilena de Pediatría PY - 2012 issn 0370-4106 AB - Mowat-Wilson syndrome (MWS) is a very infrequent congenital polimalformative disorder, caused by mutations, deletions or insertions of the ZEB2 gene, which codify for a protein that is involved in the migration of the neural crest cells and the development of middle line structures. The inheritance pattern is autosomal dominant, haplo-insufficient. KW - Ciencias socio biomédicas KW - Medical sciences KW - Enfermedad de Hirschsprung KW - Defectos congénitos KW - Epilepsia KW - Neurología pediátrica KW - Retardo mental KW - Cardiopatías congénitas UR - http://hdl.handle.net/10906/81230 ER -