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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...
Autores principales: | Kim, Eun Young, Kim, Yu Kyong, Kim, Mi Kyoung, Jung, Ji Mi, Jeon, Ga Won, Kim, Hye Ran, Sin, Jong Beom |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Korean Pediatric Society
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3174363/ https://www.ncbi.nlm.nih.gov/pubmed/21949522 http://dx.doi.org/10.3345/kjp.2011.54.6.267 |
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