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Prenatal and postnatal diagnoses and phenotype of 8p23.3p22 duplication in one family

BACKGROUND: Distal 8p duplication is rare but clinically significant. Duplication syndrome results in variable phenotypes, such as developmental delay, intellectual disability, and malformation of the heart. We aimed to provide a better understanding of the phenotypes by studying duplication and its...

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Detalles Bibliográficos
Autores principales:	Shi, Panlai, Wang, Conghui, Zheng, Yuting, Kong, Xiangdong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7988938/ https://www.ncbi.nlm.nih.gov/pubmed/33757501 http://dx.doi.org/10.1186/s12920-021-00940-z

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