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Deep Phenotyping of Development, Communication and Behaviour in Phelan-McDermid Syndrome
Phelan-McDermid syndrome (PMS; also referred to as 22q13.3 deletion syndrome) is a congenital condition due to a microdeletion in the SHANK3 gene. Cognitive and communicative deficits as well as behaviour in the autism spectrum are often noticed in affected individuals. The aim of the present study...
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| 出版年: | Mol Syndromol |
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| 主要な著者: | , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
S. Karger AG
2020
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6995976/ https://ncbi.nlm.nih.gov/pubmed/32021603 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000503840 |
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