pachyonychia congenita/proline

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Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1.

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Prijava / prijava

Pachyonychia congenita (PC) is a group of inherited ectodermal dysplasias, the characteristic phenotype being hypertrophic nail dystrophy. Two main clinical subtypes, PC-1 and PC-2, are inherited as autosomal dominant disorders, but other less well characterized clinical forms also exist. The PC-1

A severe case of pachyonychia congenita type I due to a novel proline mutation in keratin 6a.

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[Keratin 17 mutation in pachyonychia congenita type 2 in a Chinese Han family].

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Prijava / prijava

OBJECTIVE To investigate the keratin 17 gene (KRT17) mutation in a pedigree with pachyonychia congenita type 2 (PC-II). METHODS DNA was extracted from the blood samples of the patients, unaffected members of the pedigree, and 100 unrelated healthy controls. PCR was performed to amplify the hot spots

Mutation p.Leu128Pro in the 1A domain of K16 causes pachyonychia congenita with focal palmoplantar keratoderma in a Chinese family.

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Prijava / prijava

Pachyonychia congenita (PC), a rare autosomal dominant disorder characterized by hypertrophic nail dystrophy, is classified into two main clinical subtypes: PC-1 and PC-2. PC-1 is associated with mutations in the KRT6A or KRT16 genes, whereas PC-2 is linked to KRT6B or KRT17 mutations. Blood samples

Gene expression profiling in pachyonychia congenita skin.

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Prijava / prijava

BACKGROUND Pachyonychia congenita (PC) is a skin disorder resulting from mutations in keratin (K) proteins including K6a, K6b, K16, and K17. One of the major symptoms is painful plantar keratoderma. The pathogenic sequelae resulting from the keratin mutations remain unclear. OBJECTIVE To better

A KRT16 mutation in the first Chinese pedigree with Pachyonychia congenita and review of the literatures.

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Prijava / prijava

Pachyonychia congenita (PC), a rare autosomal dominant disorder, is featured by significant hypertrophic nail, palmoplantar keratoderma, and plantar pain. It is caused by the mutation of KRT6A, KRT6B, KRT6C, KRT16, or KRT17.To identify the gene mutation

Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations.

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Prijava / prijava

Pachyonychia congenita (PC) is a rare, autosomal dominant keratin disorder caused by mutations in four genes (KRT6A, KRT6B, KRT16, or KRT17). The International PC Research Registry is a database with information on patients' symptoms as well as genotypes. We sought to describe the heterogeneity of

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