Prenatal diagnosis of rearrangements in the fetal 22q11.2 region

BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) and 22q11.2 duplication syndrome (22q11.2DupS) are the most common copy number variations in humans. The clinical phenotypes of these two syndromes are variable, and there are no large sample data on the prenatal detection rate for these two syndrome...

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Detalhes bibliográficos
Publicado no:Mol Cytogenet
Main Authors: Li, Suping, Jin, Yuxia, Yang, Jing, Yang, Li, Tang, Ping, Zhou, Chiyan, Wu, Liping, Dong, Jinhua, Chen, Jie, Shen, Huaxiang
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7346507/
https://ncbi.nlm.nih.gov/pubmed/32670410
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-020-00498-y
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