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Pachyonychia congenita type 2
- Pachyonychia congenita is a condition that primarily affects the skin and nails. The signs and symptoms of this condition usually become apparent within the first ...
- ... 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 ...
- ... 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 ...
- ... 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 ...
- ... 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 ...
- ... 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 ...
- ... 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) ...
- ... to the torso and face. At about age 2, the rash fades, and the affected child is left with ... congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. Hum ...