RETRACTED ARTICLE: Clinical characterization of familial 1p36.3 microduplication

Unlike the 1p36 microdeletion syndrome, which has been extensively described, 1p36.3 microduplications have rarely been reported. We report the two siblings of familial 1p36.3 microduplication, presenting with a severe global developmental delay, epilepsy, and a few dysmorphic features. They were re...

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Detalles Bibliográficos
Autores principales: Jiao, Junping, Wang, Yuping, Hou, Yue, Gao, Chao, Shi, Huimin, Tian, Shujuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10319691/
https://www.ncbi.nlm.nih.gov/pubmed/37289317
http://dx.doi.org/10.1007/s10048-023-00722-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10319691/
https://www.ncbi.nlm.nih.gov/pubmed/37289317
http://dx.doi.org/10.1007/s10048-023-00722-y

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