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An Inherited Disorder With Splenomegaly, Cytopenias, and Vision Loss
We describe a novel inherited disorder consisting of idiopathic massive splenomegaly, cytopenias, anhidrosis, chronic optic nerve edema, and vision loss. This disorder involves three affected patients in a single non-consanguineous Caucasian family, a mother and two daughters, who are half-sisters....
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| Publicado en: | Am J Med Genet A |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
2012
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4242507/ https://ncbi.nlm.nih.gov/pubmed/22307799 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.34437 |
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