Identification of sporadic mutations in the helix initiation motif of keratin 6 in two pachyonychia congenita patients: further evidence for a mutational hot spot

: Pachyonychia congenita (PC) is a rare, autosomal dominant, ectodermal dysplasia characterized most distinctly by the presence of symmetric nail hypertrophy. In the Jadassohn‐Lewandowsky form, or PC‐1, additional cutaneous manifestations may include palmoplantar hyperkeratosis, hyperhidrosis, folli...

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