The incidence, prevalence and clinical features of MECP2 duplication syndrome in Australian children

Aim The aim of this study was to assess the incidence and prevalence of MECP2 duplication syndrome in Australian children and further define its phenotype. Methods The Australian Paediatric Surveillance Unit was used to identify children with MECP2 duplication syndrome between June 2014 and November...

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Veröffentlicht in:	Journal of paediatrics and child health 2019-11, Vol.55 (11), p.1315-1322
Hauptverfasser:	Giudice‐Nairn, Peter, Downs, Jenny, Wong, Kingsley, Wilson, Dylan, Ta, Daniel, Gattas, Michael, Amor, David, Thompson, Elizabeth, Kirrali‐Borri, Cathy, Ellaway, Carolyn, Leonard, Helen
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Australia Child Child, Preschool developmental Female Gene Duplication Genetic disorders genetics Genotype & phenotype Humans Incidence Infant Intellectual disabilities intellectual disability Intellectual Disability - epidemiology Intellectual Disability - genetics Male MECP2 duplication Methyl-CpG-Binding Protein 2 - genetics Pediatrics Phenotype population based Prevalence Pulmonary hypertension
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