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Article

A heterozygous SERPINB7 mutation is a possible modifying factor for epidermolytic palmoplantar keratoderma.

Journal of dermatological science - 1 Nov 2020

Yoshikawa Takenori, Takeichi Takuya, Ogi Tomoo, Suga Yasushi, Muro Yoshinao, Akiyama Masashi

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Identifiers

PMID: 33012634
DOI: 10.1016/j.jdermsci.2020.05.001

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A heterozygous SERPINB7 mutation is a possible modifying factor for epidermolytic palmoplantar keratoderma.PMID 33012634Read ↗

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

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

A sporadic case of Nagashima-type palmoplantar keratosis caused by gene mutation in SERPINB7.Semantic proximity Read ↗

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

Two novel mutations of SERPINB7 in eight cases of Nagashima-type palmoplantar keratosis in the Chinese population.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 ↗

Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis.Semantic proximity Read ↗

A novel SERPINA12 variant and first European patients with diffuse palmoplantar keratoderma.Semantic proximity Read ↗

Loss-of-Function Variants in SERPINA12 Underlie Autosomal Recessive Palmoplantar Keratoderma.Semantic proximity Read ↗

Clinical and genetic characteristics of Nagashima-type palmoplantar keratoderma: A single-centre cross-sectional studySemantic proximity Read ↗

Nagashima-type palmoplantar keratosis in Finland caused by a SERPINB7 founder mutationSemantic proximity Read ↗

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