Mutations in PIK3R1 Cause SHORT Syndrome

SHORT syndrome is a rare, multisystem disease characterized by short stature, anterior-chamber eye anomalies, characteristic facial features, lipodystrophy, hernias, hyperextensibility, and delayed dentition. As part of the FORGE (Finding of Rare Disease Genes) Canada Consortium, we studied individu...

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Main Authors: Dyment, David A., Smith, Amanda C., Alcantara, Diana, Schwartzentruber, Jeremy A., Basel-Vanagaite, Lina, Curry, Cynthia J., Temple, I. Karen, Reardon, William, Mansour, Sahar, Haq, Mushfequr R., Gilbert, Rodney, Lehmann, Ordan J., Vanstone, Megan R., Beaulieu, Chandree L., Majewski, Jacek, Bulman, Dennis E., O’Driscoll, Mark, Boycott, Kym M., Innes, A. Micheil
格式: Artigo
語言:Inglês
出版: Elsevier 2013
主題:
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3710754/
https://ncbi.nlm.nih.gov/pubmed/23810382
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.06.005
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