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Results 1 - 8 of 8 for Pachyonychia congenita 2
  1. Pachyonychia congenita 
    ... Testing Registry: Pachyonychia congenita 1 Genetic Testing Registry: Pachyonychia congenita 2 Genetic Testing Registry: Pachyonychia congenita 4 Genetic Testing ...
    https://medlineplus.gov/genetics/condition/pachyonychia-congenita - Genetics
  2. KRT17 gene 
    ... Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. Br J Dermatol. 1998 Sep;139(3):475- ... A, McLean WH. Novel keratin 17 mutations in pachyonychia congenita type 2. J Invest Dermatol. 2001 May;116(5):806- ...
    https://medlineplus.gov/genetics/gene/krt17 - Genetics
  3. KRT6B gene 
    ... Stein SL. A novel mutation in K6b in pachyonychia congenita type 2. J Invest Dermatol. 2007 Aug;127(8):2060- ... K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2. Hum Mol Genet. 1998 Jul;7(7):1143- ...
    https://medlineplus.gov/genetics/gene/krt6b - Genetics
  4. Steatocystoma multiplex 
    ... Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. Br J Dermatol. 1998 Sep;139(3):475- ... WH. Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex. J Invest ...
    https://medlineplus.gov/genetics/condition/steatocystoma-multiplex - Genetics
  5. KRT16 gene 
    ... FJ. The molecular genetic analysis of the expanding pachyonychia congenita case collection. Br J Dermatol. 2014 Aug;171(2):343-55. doi: 10.1111/bjd.12958. Epub ...
    https://medlineplus.gov/genetics/gene/krt16 - Genetics
  6. KRT6C gene 
    ... FJ. The molecular genetic analysis of the expanding pachyonychia congenita case collection. Br J Dermatol. 2014 Aug;171(2):343-55. doi: 10.1111/bjd.12958. Epub ...
    https://medlineplus.gov/genetics/gene/krt6c - Genetics
  7. KRT6A gene 
    ... FJ. The molecular genetic analysis of the expanding pachyonychia congenita case collection. Br J Dermatol. 2014 Aug;171(2):343-55. doi: 10.1111/bjd.12958. Epub ...
    https://medlineplus.gov/genetics/gene/krt6a - Genetics
  8. Poikiloderma with neutropenia 
    ... and toenails that are thick and abnormally shaped (pachyonychia), fragile teeth, and low bone density.People with ... telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. Hum ...
    https://medlineplus.gov/.../condition/poikiloderma-with-neutropenia - Genetics