A novel case of global developmental delay syndrome with microdeletion at 10p14–p15.3 and microduplication at 18p11.31–p11.32

To characterize the etiology underlying a novel case of global developmental delay syndrome (GDDS) identified in a female child, aged 3 years old. This syndrome is a common pediatric presentation estimated to affect 3.65% of children aged 3 to 17 years. The proband's detailed family history was...

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Detalles Bibliográficos
Autores principales: Zhang, Danyan, Zhu, Yijian, Feng, Xuefei, Dai, Limeng, Ma, Mingfu, Li, Lianbing, Guo, Hong, Zhao, Letian, Zhang, Yuping, Bai, Yun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6485806/
https://www.ncbi.nlm.nih.gov/pubmed/30985688
http://dx.doi.org/10.1097/MD.0000000000015146

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6485806/
https://www.ncbi.nlm.nih.gov/pubmed/30985688
http://dx.doi.org/10.1097/MD.0000000000015146

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