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Pachyonychia congenita syndrome
- ... Registry: Pachyonychia congenita 4 Genetic Testing Registry: Pachyonychia congenita syndrome Pachyonychia congenita National Organization for Rare Disorders (NORD) ClinicalTrials. ...
- ... 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 ...
- ... 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 ...
- ... 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 ...
- ... 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) ...
- ... 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 ...
- ... and toenails that are thick and abnormally shaped (pachyonychia), fragile teeth, and low bone ... congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. Hum ...