A 9-Year-Old-Girl with Phelan McDermid Syndrome, Who Had been Diagnosed with an Autism Spectrum Disorder

Phelan McDermid Syndrome (PHMDS) (OMIM #606232), is a contiguous gene disorder resulting from deletion of the distal long arm of chromosome 22. The 22q13.3 deletions and mutations that lead to a loss of a functional copy of SHANK3 (OMIM *606230) cause the syndrome, characterized by moderate to profo...

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Detalles Bibliográficos
Autores principales: Görker, I, Gürkan, H, Demir Ulusal, S, Atlı, E, Ikbal Atlı, E
Formato: Online Artículo Texto
Lenguaje:English
Publicado: De Gruyter 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5343336/
https://www.ncbi.nlm.nih.gov/pubmed/28289594
http://dx.doi.org/10.1515/bjmg-2016-0041

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