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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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Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: Ricciardello, Arianna, Tomaiuolo, Pasquale, Persico, Antonio M.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8251815/
https://ncbi.nlm.nih.gov/pubmed/33949759
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.62222
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