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A Novel 1.13 Mb Interstitial Duplication at 19q13.32 Causing Developmental Delay and Microcephaly in a Pediatric Patient: the First Asian Case Report
Only 6 patients with partial trisomy of the long arm of chromosome 19 (19q), caused by direct interstitial duplications, have been reported until today. Herein, we report a pediatric patient with a novel 1.13 Mb direct interstitial duplication within 19q13.32, which is the smallest fragment affected...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Yonsei University College of Medicine
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5653492/ https://www.ncbi.nlm.nih.gov/pubmed/29047251 http://dx.doi.org/10.3349/ymj.2017.58.6.1241 |