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A Mosaic 2q24.2 Deletion Narrows the Critical Region to a 0.4 Mb Interval That Includes TBR1, TANK, and PSMD14

Interstitial deletions involving 2q24 have been associated with a wide range of phenotypes including intellectual disability and short stature. To date, the smallest common region among reported cases of deletions in this region is approximately 2.65 Mb and contains 15 genes. In the present case rep...

詳細記述

保存先:
書誌詳細
出版年:Am J Med Genet A
主要な著者: Burrage, Lindsay C., Eble, Tanya N., Hixson, Patricia M., Roney, Erin K., Cheung, Sau W., Franco, Luis M.
フォーマット: Artigo
言語:Inglês
出版事項: 2013
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6868782/
https://ncbi.nlm.nih.gov/pubmed/23444363
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.35751
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