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Fraternal twins with Phelan-McDermid syndrome not involving the SHANK3 gene: case report and literature review
BACKGROUND: Phelan-McDermid syndrome (PMS, OMIM#606232), or 22q13 deletion syndrome, is a rare genetic disorder caused by deletion of the distal long arm of chromosome 22 with a variety of clinical features that display considerably heterogeneous degrees of severity. The SHANK3 gene is understood to...
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| Publicado no: | BMC Med Genomics |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7539423/ https://ncbi.nlm.nih.gov/pubmed/33023580 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-020-00802-0 |
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