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Results 1 - 9 of 9 for Storm syndrome
  1. Vohwinkel syndrome 
    ... for Rare Disorders (NORD) VOHWINKEL SYNDROME; VOWNKL VOHWINKEL SYNDROME, VARIANT FORM PubMed de Zwart-Storm EA, van Geel M, Veysey E, Burge S, Cooper S, Steijlen PM, Martin PE, van Steensel MA. A novel missense mutation in ... causes severe Vohwinkel syndrome. Br J Dermatol. 2011 Jan;164(1):197- ...
    https://medlineplus.gov/genetics/condition/vohwinkel-syndrome - Genetics
  2. Auriculo-condylar syndrome 
    ... on PubMed or Free article on PubMed Central Storm AL, Johnson JM, Lammer E, Green GE, Cunniff C. Auriculo-condylar syndrome is associated with highly variable ear and mandibular ...
    https://medlineplus.gov/.../condition/auriculo-condylar-syndrome - Genetics
  3. Mowat-Wilson syndrome 
    ... J, Slavotinek A, Martin M, Keppler-Noreuil K, Storm AL, Hudgins L. Clinical features and management issues in Mowat-Wilson syndrome. Am J Med Genet A. 2006 Dec 15; ...
    https://medlineplus.gov/genetics/condition/mowat-wilson-syndrome - Genetics
  4. FOXG1 syndrome 
    ... Bergh M, Ponomarenko N, Verstraete L, Ceulemans B, Storm K. Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome. Mol Syndromol. 2011 Sep;1(6):290-293. ...
    https://medlineplus.gov/genetics/condition/foxg1-syndrome - Genetics
  5. Palmoplantar keratoderma with deafness 
    ... 2007 Nov 9. Citation on PubMed de Zwart-Storm EA, van Geel M, van Neer PA, Steijlen PM, Martin PE, van Steensel MA. A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness. Am J ...
    https://medlineplus.gov/.../palmoplantar-keratoderma-with-deafness - Genetics
  6. COLEC11 gene 
    ... immune system abnormalities are not part of 3MC syndrome. More About This Health Condition 3MC2 CL-K1 ... Bayarri-Olmos R, Hansen S, Henriksen ML, Storm L, Thiel S, Garred P, Munthe-Fog L. ...
    https://medlineplus.gov/genetics/gene/colec11 - Genetics
  7. COLEC10 gene 
    ... immune system abnormalities are not part of 3MC syndrome. More About This Health Condition ... Bayarri-Olmos R, Hansen S, Henriksen ML, Storm L, Thiel S, Garred P, Munthe-Fog L. ...
    https://medlineplus.gov/genetics/gene/colec10 - Genetics
  8. Oculodentodigital dysplasia 
    ... 30412. Citation on PubMed Vreeburg M, de Zwart-Storm EA, Schouten MI, Nellen RG, Marcus-Soekarman D, ...
    https://medlineplus.gov/.../condition/oculodentodigital-dysplasia - Genetics
  9. KMT2D gene 
    ... Minturn JE, Biegel JA, Judkins AR, Resnick AC, Storm PB, Curran T, He Y, Rasheed BA, Friedman ...
    https://medlineplus.gov/genetics/gene/kmt2d - Genetics