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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...

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Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: Burrage, Lindsay C., Eble, Tanya N., Hixson, Patricia M., Roney, Erin K., Cheung, Sau W., Franco, Luis M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
Assuntos:
Acesso em linha: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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