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Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2)
Maternal uniparental disomy for the complete long arm of chromosome 14 has been reported in 14 patients to date and is associated with a specific pattern of malformation. We report a child with clinical features of this syndrome who exhibits maternal uniparental disomy confined to a specific interst...
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| Auteurs principaux: | , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
BMJ Group
1999
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1762978/ https://ncbi.nlm.nih.gov/pubmed/10465116 |
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