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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Dades bibliogràfiques
Publicat a:Mol Cytogenet
Autors principals: Li, Suping, Jin, Yuxia, Yang, Jing, Yang, Li, Tang, Ping, Zhou, Chiyan, Wu, Liping, Dong, Jinhua, Chen, Jie, Shen, Huaxiang
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2020
Matèries:
Research
Accés en línia: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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