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Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation
Maternal uniparental disomy of chromosome 14 (upd(14)mat) or Temple syndrome is an imprinting disorder associated with a relatively mild phenotype. The absence of specific congenital malformations makes this condition underdiagnosed in clinical practice. A boy with a de novo robertsonian translocati...
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| Publicado no: | Mol Syndromol |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
S. Karger AG
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5448444/ https://ncbi.nlm.nih.gov/pubmed/28588434 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000456062 |
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