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Neural Tube Defects and Atypical Deletion on 22q11.2

The 22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion disorder. Most of the patients show the common 3 Mb deletion but proximal 1.5 Mb deletion and unusual deletions located outside the common deleted region, have been detected particularly with the advance of comparative cytogenomic m...

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Detalhes bibliográficos
Main Authors: Leoni, Chiara, Stevenson, David A., Geiersbach, Katherine B., Paxton, Christian N., Krock, Bryan L., Mao, Rong, Rope, Alan F.
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4205263/
https://ncbi.nlm.nih.gov/pubmed/25123577
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36701
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