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Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations
BACKGROUND: Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by psychiatric and neurological features. Most reported cases are caused by 22q13.3 deletions, leading to SHANK3 haploinsufficiency, but also usually encompassing many other genes. While the number of point mut...
Salvato in:
| Pubblicato in: | Mol Autism |
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| Autori principali: | , , , , , , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BioMed Central
2018
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5921983/ https://ncbi.nlm.nih.gov/pubmed/29719671 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13229-018-0205-9 |
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