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Results 1 - 3 of 3 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. 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
  3. 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