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New phenotypes associated with 3q29 duplication syndrome: Results from the 3q29 registry
3q29 duplication syndrome (3q29dup) is a rare genomic disorder caused by a 1.6 Mb duplication (GRCh38 chr3:195,998,000-197,623,000). Case reports indicate the 3q29dup is likely to be pathogenic, but the full range of manifestations is not well understood. We used the 3q29 registry (https://3q29.com)...
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| Pubblicato in: | Am J Med Genet A |
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| Autori principali: | , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2020
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7785085/ https://ncbi.nlm.nih.gov/pubmed/32154651 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61540 |
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