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19 results
  1. KRT16 gene 
    https://medlineplus.gov/genetics/gene/krt16
    ... KRT16 gene have been identified in people with pachyonychia congenita, a rare condition that primarily affects the nails ... Most of the KRT16 gene mutations associated with pachyonychia congenita change single protein building blocks (amino acids) in ...
  2. KRT6A gene 
    https://medlineplus.gov/genetics/gene/krt6a
    ... KRT6A gene have been identified in people with pachyonychia congenita, a rare condition that primarily affects the nails ... amino acids.The KRT6A gene mutations responsible for pachyonychia congenita change the structure of keratin 6a, preventing it ...
  3. KRT17 gene 
    https://medlineplus.gov/genetics/gene/krt17
    ... KRT17 gene have been identified in people with pachyonychia congenita, a rare condition that primarily affects the nails ... Most of the KRT17 gene mutations associated with pachyonychia congenita change single protein building blocks (amino acids) in ...
  4. KRT6B gene 
    https://medlineplus.gov/genetics/gene/krt6b
    ... KRT6B gene have been identified in people with pachyonychia congenita, a rare condition that primarily affects the nails ... the protein.The KRT6B gene mutations responsible for pachyonychia congenita change the structure of keratin 6b, preventing it ...
  5. Steatocystoma multiplex 
    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 ...
  6. KRT6C gene 
    https://medlineplus.gov/genetics/gene/krt6c
    ... the KRT6C gene have been found to cause pachyonychia congenita, a rare condition that primarily affects the nails ... of life.One of the mutations associated with pachyonychia congenita changes a single protein building block (amino acid) ...
  7. Poikiloderma with neutropenia 
    https://medlineplus.gov/.../condition/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 ...
  8. Poikiloderma with Neutropenia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK459118
    ... 2021 ]. Nails. Thickened, hyperkeratotic toenails and/or fingernails (pachyonychia) are common; dystrophic nails, which can slough, may ... clinically misdiagnosed as having Rothmund-Thomson syndrome, dyskeratosis congenita, and Kindler syndrome (a rare subtype of epidermolysis ...
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