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Prenatal diagnosis of a 5q35.3 microduplication involving part of the ADAMTS2 locus: a likely benign variant without apparent phenotypic abnormality: Case series

RATIONALE: Chromosomal duplications are associated with a series of genetic disorders. However, chromosome 5q duplications, especially pure 5q35.3 microduplications, have rarely been reported in the literature. Clinical phenotypes usually depend on the region of chromosome duplicated, its size, and...

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Detalhes bibliográficos
Publicado no:Medicine (Baltimore)
Main Authors: Yue, Fagui, Yu, Yang, Xi, Qi, Zhang, Hongguo, Jiang, Yuting, Li, Shibo, Liu, Ruizhi, Wang, Ruixue
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer Health 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6919437/
https://ncbi.nlm.nih.gov/pubmed/31804359
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000018258
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