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Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations
BACKGROUND: Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder associated with a terminal deletion affecting chromosome 22 (22q13) that results in the loss of function of the SHANK3 gene. SHANK3 has also been identified in gene-linkage studies to be associated with autism spectrum disor...
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| Publicado no: | Orphanet J Rare Dis |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4549933/ https://ncbi.nlm.nih.gov/pubmed/26306707 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-015-0323-9 |
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