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21 results
  1. Pachyonychia congenita: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/pachyonychia-congenita
    ... PACHYONYCHIA CONGENITA 2; PC2 PACHYONYCHIA CONGENITA 3; PC3 PACHYONYCHIA CONGENITA 4; PC4 Scientific Articles on PubMed PubMed References Eliason MJ, Leachman SA, Feng BJ, Schwartz ME, ...
  2. KRT6B gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/krt6b
    ... KRT6B Gene and Variant Databases NCBI Gene ClinVar References McLean WH, Hansen CD, Eliason MJ, Smith FJ. The phenotypic and molecular genetic features of pachyonychia congenita. J Invest Dermatol. 2011 May;131(5):1015- ...
  3. KRT16 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/krt16
    ... KRT16 Gene and Variant Databases NCBI Gene ClinVar References Fu T, Leachman SA, Wilson NJ, Smith FJ, Schwartz ME, Tang JY. Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations. J Invest Dermatol. 2011 ...
  4. KRT6A gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/krt6a
    ... KRT6A Gene and Variant Databases NCBI Gene ClinVar References Bowden PE, Haley JL, Kansky A, Rothnagel JA, Jones DO, Turner RJ. Mutation of a type II keratin gene (K6a) in pachyonychia congenita. Nat Genet. 1995 Jul;10(3):363-5. ...
  5. KRT17 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/krt17
    ... KRT17 Gene and Variant Databases NCBI Gene ClinVar References Covello SP, Smith FJ, Sillevis Smitt JH, Paller AS, Munro CS, Jonkman MF, Uitto J, McLean WH. Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. Br J Dermatol. 1998 Sep;139( ...
  6. KRT6C gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/krt6c
    ... physical stresses. Health Conditions Related to Genetic Changes Pachyonychia congenita At least four mutations in the KRT6C gene have been found to cause pachyonychia congenita, a rare condition that primarily affects the nails ...
  7. Steatocystoma multiplex: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/steatocystoma-multiplex
    ... is a variant form of a disorder called pachyonychia congenita , which can also result from mutations in the KRT17 gene. Like steatocystoma multiplex, pachyonychia congenita involves the growth of steatocystomas. Pachyonychia congenita is ...
  8. 2019New_Mesh_Tree_Hierarchy.txt 
    https://www.nlm.nih.gov/.../download/2019New_Mesh_Tree_Hierarchy.txt
    ... 712 Neurocutaneous Syndromes C16.131.077.350.856 Pachyonychia Congenita C16.131.077.371 Fraser Syndrome C16.131. ... 712 Neurocutaneous Syndromes C16.131.831.350.856 Pachyonychia Congenita C16.131.831.350.856.500 Steatocystoma Multiplex ...
  9. Hidrotic Ectodermal Dysplasia 2 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1200
    ... with a clinical picture similar to that of pachyonychia congenita [ van Steensel et al 2003 ] (see Differential Diagnosis ). ... Hypotrichosis-deafness syndrome [ van Steensel et al 2004 ] Pachyonychia congenita (PC), characterized by hypertrophic nail dystrophy, painful palmoplantar ...
  10. pdf2017MeshTreesWithChangesShown.pdf 
    https://www.nlm.nih.gov/.../2017MeshTreesWithChangesShown.pdf
    ... Van Creveld Syndrome Focal Dermal Hypoplasia Neurocutaneous Syndromes Pachyonychia Congenita Steatocystoma Multiplex Ehlers-Danlos Syndrome Epidermolysis Bullosa Epidermolysis ...
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