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Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms
Temple syndrome (TS) and Kagami-Ogata syndrome (KOS) are imprinting disorders caused by absence or overexpression of genes within a single imprinted cluster on human chromosome 14q32. TS most frequently arises from maternal UPD14 or epimutations/deletions on the paternal chromosome, whereas KOS most...
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| Publicado no: | Hum Mol Genet |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8325017/ https://ncbi.nlm.nih.gov/pubmed/32592473 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddaa133 |
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