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Neurocognitive follow‐up in adult siblings with Phelan–McDermid syndrome due to a novel SHANK3 splicing site mutation

Abstract Background Phelan–McDermid syndrome (PMD) is usually not only caused by 22q13.3 deletion but also pathogenic variants (mutations) of SHANK3 gene. PMD is characterized by global intellectual disability, severely delayed or absent speech, and features of autism spectrum disorder and susceptib...

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Principais autores: Minna Kankuri‐Tammilehto, Oili Sauna‐aho, Maria Arvio
Formato: Artigo
Idioma:Inglês
Publicado em: Wiley 2021-12-01
coleção:Molecular Genetics & Genomic Medicine
Assuntos:
infantile autism
intellectual disability
mosaicism
Phelan–McDermid syndrome
SHANK3 splicing site mutation
Acesso em linha:https://doi.org/10.1002/mgg3.1780
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