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Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome
Chromosome 22q13.3 deletion (Phelan McDermid) syndrome (PMS) is a rare genetic neurodevelopmental disorder resulting from deletions or other genetic variants on distal 22q. Pathological variants of the SHANK3 gene have been identified, but terminal chromosomal deletions including SHANK3 are most com...
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| Publicado no: | Eur J Hum Genet |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group UK
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5838980/ https://ncbi.nlm.nih.gov/pubmed/29358616 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-017-0042-x |
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