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Journal of Clinical Investigation, ISSN 0021-9738, 04/2017, Volume 127, Issue 4, pp. 1485 - 1490
  Dowling-Degos disease (DDD) is an autosomal-dominant disorder of skin pigmentation associated with mutations in keratin 5 (KRT5), protein... 
Proteins | Studies | Cell culture | Hypotheses | Disease | Acne | Mutation | Experiments
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2016, Volume 99, Issue 6, pp. 1292 - 1304
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 04/2017, Volume 127, Issue 4, p. 1485
Dowling-Degos disease (DDD) is an autosomal-dominant disorder of skin pigmentation associated with mutations in keratin 5 (KRT5), protein O-fucosyltransferase... 
Care and treatment | Genetic aspects | Gene mutations | Pigmentation disorders | Health aspects | Acne
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 12/2016, Volume 99, Issue 6, p. 1292
  Uncombable hair syndrome (UHS), also known as "spun glass hair syndrome," "pili trianguli et canaliculi," or "cheveux incoiffables" is a rare anomaly of the... 
Proteins | Cell culture | Scanning electron microscopy | Genes | Mutation | Children & youth
Journal Article
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