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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. ...
- ... 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 ...