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Striate Palmoplantar Keratoderma Showing Transgrediens in a Patient Harbouring Heterozygous Nonsense Mutations in Both DSG1 and SERPINB7.

Acta dermato-venereologica - 10 Mar 2017

Fukaura Ryo, Takeichi Takuya, Okuno Yusuke, Kojima Daiei, Kono Michihiro, Sugiura Kazumitsu, Suga Yasushi, Akiyama Masashi

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Source

Identifiers

PMID: 27786350
DOI: 10.2340/00015555-2553

Genes

DSG1
SERPINB7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Striate Palmoplantar Keratoderma Showing Transgrediens in a Patient Harbouring Heterozygous Nonsense Mutations in Both DSG1 and SERPINB7.PMID 27786350Read ↗

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Mutation in DSG1 causing autosomal dominant striate palmoplantar keratoderma.Semantic proximity Read ↗

Digenic Biallelic Variants in SERPINB7 and SERPINA12 in a Patient With a Severe Phenotype of Nagashima‐Type Palmoplantar KeratosisSemantic proximity Read ↗

Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani familiesSemantic proximity Read ↗

Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1.Semantic proximity Read ↗

Progressive Nagashima-type palmoplantar keratosis in a Chinese patient with recurrent c.796C>T mutation in SERPINB7.Semantic proximity Read ↗

Mutations in desmoglein 1 cause diverse inherited palmoplantar keratoderma phenotypes: implications for genetic screening.Semantic proximity Read ↗

Acantholytic dyskeratotic epidermal naevus and striate palmoplantar keratoderma associated with DSG1 mutation: evidence for segmental type 2 mosaicism.Semantic proximity Read ↗

A heterozygous SERPINB7 mutation is a possible modifying factor for epidermolytic palmoplantar keratoderma.Semantic proximity Read ↗

Nagashima-type palmoplantar keratosis caused by compound heterozygous mutations in SERPINB7.Semantic proximity Read ↗

Potential digenic inheritance of SERPINB7 and SERPINA12 variants in Chinese patients with Nagashima-type palmoplantar keratosisSemantic proximity Read ↗

Identification of previously unknown SERPINB7 splice variants in patients with Nagashima-type palmoplantar keratosis reveals the importance of the CD-loop of SERPINB7.Semantic proximity Read ↗

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