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Results 1 - 10 of 15 for Epstein syndrome
  1. MYH9-related disorder 
    ... to be four separate disorders: May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome, and Sebastian syndrome. All of these ... Igarashi T, Saito H, Kunishima S. Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric ...
    https://medlineplus.gov/genetics/condition/myh9-related-disorder - Genetics
  2. MYH9 gene 
    ... Igarashi T, Saito H, Kunishima S. Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric ...
    https://medlineplus.gov/genetics/gene/myh9 - Genetics
  3. X-linked lymphoproliferative disease 
    ... virus-induced lymphoproliferative disease in males Familial fatal Epstein-Barr infection Purtilo syndrome Severe susceptibility to EBV infection Severe susceptibility to ...
    https://medlineplus.gov/.../x-linked-lymphoproliferative-disease - Genetics
  4. Activated PI3K-delta syndrome 
    ... also have chronic active viral infections, such as Epstein-Barr virus, herpes simplex virus, or cytomegalovirus infections.Another possible feature of activated PI3K-delta syndrome is abnormal clumping of white blood cells. These ...
    https://medlineplus.gov/.../condition/activated-pi3k-delta-syndrome - Genetics
  5. TBX1 gene 
    ... 1002/dvdy.20201. Citation on PubMed Stoller JZ, Epstein JA. Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation. Hum Mol Genet. ...
    https://medlineplus.gov/genetics/gene/tbx1 - Genetics
  6. CDKL5 deficiency disorder 
    ... on PubMed Mangatt M, Wong K, Anderson B, Epstein A, Hodgetts S, Leonard H, Downs J. Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome. Orphanet J Rare Dis. 2016 Apr 14;11: ...
    https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder - Genetics
  7. FERMT1 gene 
    ... Mallipeddi R, Eady RA, McLean WH, McGrath JA, Epstein EH. Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. Am J Hum Genet. 2003 Jul;73(1): ...
    https://medlineplus.gov/genetics/gene/fermt1 - Genetics
  8. Kindler epidermolysis bullosa 
    ... Mallipeddi R, Eady RA, McLean WH, McGrath JA, Epstein EH. Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. Am J Hum Genet. 2003 Jul;73(1): ...
    https://medlineplus.gov/.../condition/kindler-epidermolysis-bullosa - Genetics
  9. KCNJ2 gene 
    ... is a novel mechanism underlying the short QT syndrome. Cardiovasc Res. 2012 Mar 15;93(4):535-6. doi: 10.1093/cvr/cvs084. Epub 2012 Feb 5. No abstract available. Citation on PubMed Chun TU, Epstein MR, Dick M 2nd, Andelfinger G, Ballester L, ...
    https://medlineplus.gov/genetics/gene/kcnj2 - Genetics
  10. SH2D1A gene 
    ... Natural killer T cells and X-linked lymphoproliferative syndrome. Curr Opin Allergy Clin ... Epstein-Barr virus (EBV) induced mononucleosis and promotes lymphoma ...
    https://medlineplus.gov/genetics/gene/sh2d1a - Genetics
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