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Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype
We report on a boy with a maternal uniparental disomy for chromosome 14 (UPD(14)). At 7 years of age he was referred to us by the paediatrician because of symptoms of Prader-Willi syndrome (PWS). He showed short stature, obesity, mild developmental delay, cryptorchidism, and some mild dysmorphic fea...
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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/PMC1734247/ https://ncbi.nlm.nih.gov/pubmed/10528860 |
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