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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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| Asıl Yazarlar: | , , , , , , , , , , , , , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Elsevier
2013
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| Konular: | |
| Online Erişim: | 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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