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Results 1 - 4 of 4 for "Dowling-Degos" disease 2
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  1. POGLUT1 gene 
    ... encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease. Am J Hum Genet. 2014 Jan 2;94(1):135-43. doi: 10.1016/j. ...
    https://medlineplus.gov/genetics/gene/poglut1 - Genetics
  2. PSENEN gene 
    ... This Health Condition MedlinePlus Genetics provides information about Dowling-Degos disease More About This Health Condition gamma-secretase subunit PEN-2 hematopoietic stem/progenitor cells protein MDS033 MDS033 MSTP064 ...
    https://medlineplus.gov/genetics/gene/psenen - Genetics
  3. POFUT1 gene 
    ... Bygum A, Betz RC. Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura. J Invest Dermatol. 2015 Feb;135(2):615-618. doi: 10.1038/jid.2014.406. ...
    https://medlineplus.gov/genetics/gene/pofut1 - Genetics
  4. KRT5 gene 
    ... the KRT5 gene have been found to cause Dowling-Degos disease. This condition results in various skin abnormalities, including ... and creases. Most KRT5 gene mutations that cause Dowling-Degos disease lead to the production of a keratin 5 ...
    https://medlineplus.gov/genetics/gene/krt5 - Genetics