pachyonychia congenita/tyrosine

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[Two mutations of the KRT6A gene in Chinese patients with pachyonychia congenita type I].

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OBJECTIVE To investigate the gene mutation in a Chinese pedigree and one sporadic case with pachyonychia congenita type I(PC-1), as well as to explore the relationship between the genotype and phenotype. METHODS The whole coding region of the KRT16 and KRT6A genes were amplified by long-range

Peripheral neuropathic changes in pachyonychia congenita.

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We compared patterns of intraepidermal nerve fibers and mechanoreceptors from affected and unaffected plantar skin from patients with pachyonychia congenita (PC) and control subjects. Plantar biopsies from 10 genetically confirmed patients with PC (with a mutation in KRT6A) were performed at the

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