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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Auteurs principaux:	Görker I, Gürkan H, Demir Ulusal S, Atlı E, Ikbal Atlı E
Format:	Artigo
Langue:	Inglês
Publié:	Sciendo 2016-12-01
Collection:	Balkan Journal of Medical Genetics
Sujets:	autism spectrum disorder (asd) phelan mcdermid syndrome (phmds) 22q13.3 deletion
Accès en ligne:	https://doi.org/10.1515/bjmg-2016-0041
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