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Results 1 - 5 of 5 for Congenital ichthyosis of skin
  1. ABCA12 gene 
    ... Toole EA. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet. 2005 May;76(5): ... is a major causative gene for non-bullous congenital ichthyosiform erythroderma. J ... regulation and skin-barrier dysfunction. Cell Tissue Res. 2013 Feb;351( ...
    https://medlineplus.gov/genetics/gene/abca12 - Genetics
  2. KRT10 gene 
    ... Mutations in the KRT10 gene can cause another skin disorder known as ichthyosis with confetti (also called congenital reticular ichthyosiform erythroderma), which is characterized by red, ...
    https://medlineplus.gov/genetics/gene/krt10 - Genetics
  3. TGM1 gene 
    ... phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. J Med Genet. 2009 Feb; ... JR. Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling ...
    https://medlineplus.gov/genetics/gene/tgm1 - Genetics
  4. ALOX12B gene 
    ... Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic ... epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. Hum Mutat. 2005 Oct;26(4):351-61. ...
    https://medlineplus.gov/genetics/gene/alox12b - Genetics
  5. ALOXE3 gene 
    ... Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic ... epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. Hum Mutat. 2005 Oct;26(4):351-61. ...
    https://medlineplus.gov/genetics/gene/aloxe3 - Genetics