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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...

詳細記述

保存先:
書誌詳細
主要な著者: Leoni, Chiara, Stevenson, David A., Geiersbach, Katherine B., Paxton, Christian N., Krock, Bryan L., Mao, Rong, Rope, Alan F.
フォーマット: Artigo
言語:Inglês
出版事項: 2014
主題:
オンライン・アクセス: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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