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Genotype–phenotype correlation in Phelan‐McDermid syndrome: A comprehensive review of chromosome 22q13 deleted genes

Phelan‐McDermid syndrome (PMS, OMIM #606232), also known as chromosome 22q13 deletion syndrome, is a rare genetic disorder characterized by intellectual disability, hypotonia, delayed or absent speech, motor impairment, autism spectrum disorder, behavioral anomalies, and minor aspecific dysmorphic f...

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Detalles Bibliográficos
Autores principales:	Ricciardello, Arianna, Tomaiuolo, Pasquale, Persico, Antonio M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley & Sons, Inc. 2021
Materias:	Research Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8251815/ https://www.ncbi.nlm.nih.gov/pubmed/33949759 http://dx.doi.org/10.1002/ajmg.a.62222

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