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Characterisation of the clinical phenotype in Phelan-McDermid syndrome
BACKGROUND: Phelan-McDermid syndrome (PMS) is a rare genetic disorder compromising the 22q13 terminal region and affecting SHANK3, a gene crucial to the neurobehavioural phenotype and strongly linked to autism (ASD) and intellectual disability (ID). The condition is characterised by global developme...
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| Publicado no: | J Neurodev Disord |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8272382/ https://ncbi.nlm.nih.gov/pubmed/34246244 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s11689-021-09370-5 |
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