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Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children

BACKGROUND: Phelan-McDermid syndrome (PMS) or 22q13.3 deletion syndrome is characterized by global developmental delay, cognitive deficits, and behaviour in the autism spectrum. Knowledge about developmental and behavioural characteristics of this rare chromosomal disorder is still limited despite a...

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Detalles Bibliográficos
Autores principales: Zwanenburg, Renée J., Ruiter, Selma A.J., van den Heuvel, Edwin R., Flapper, Boudien C.T., Van Ravenswaaij-Arts, Conny M.A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4845478/
https://www.ncbi.nlm.nih.gov/pubmed/27118998
http://dx.doi.org/10.1186/s11689-016-9150-0