Patient With Delayed Development Resulting From De Novo Duplication of 7q36.1-q36.3 and Deletion of 9p24.3

Patients with a duplication from 7q36 to the terminus or a deletion of 9p24 have been reported, whereas those harboring both mutations have not. Here, we report a patient with simultaneous de novo 7q36.1-q36.3 duplication and 9p24.3 deletion. A 6-year-old boy presented with speech developmental dela...

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Detalhes bibliográficos
Publicado no:Ann Rehabil Med
Main Authors: Choi, Asayeon, Oh, Ja-Young, Kim, Myungshin, Jang, Woori, Jang, Dae-Hyun
Formato: Artigo
Idioma:Inglês
Publicado em: Korean Academy of Rehabilitation Medicine 2017
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5698677/
https://ncbi.nlm.nih.gov/pubmed/29201829
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5535/arm.2017.41.5.881
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