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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Veröffentlicht in:Am J Med Genet A
Hauptverfasser: Tantravahi, Srinivas K., Williams, Lloyd B., Digre, Kathleen B., Creel, Donnell J., Smock, Kristi J., DeAngelis, Margaret M., Clayton, Frederic C., Vitale, Albert T., Rodgers, George M.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2012
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Article
Online Zugang: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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