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A case of de novo duplication of 15q24-q26.3
Distal duplication, or trisomy 15q, is an extremely rare chromosomal disorder characterized by prenatal and postnatal overgrowth, mental retardation, and craniofacial malformations. Additional abnormalities typically include an unusually short neck, malformations of the fingers and toes, scoliosis a...
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| Hlavní autoři: | , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
The Korean Pediatric Society
2011
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3174363/ https://ncbi.nlm.nih.gov/pubmed/21949522 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2011.54.6.267 |
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