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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...

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Detalhes bibliográficos
Publicado no:Yonsei Med J
Main Authors: Rim, John Hoon, Kim, Jeong A, Yoo, Jongha
Formato: Artigo
Idioma:Inglês
Publicado em: Yonsei University College of Medicine 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5653492/
https://ncbi.nlm.nih.gov/pubmed/29047251
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3349/ymj.2017.58.6.1241
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