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Article

Mild epidermolytic ichthyosis with palmoplantar keratoderma due to the KRT1 mutation p.lle479Thr.

The Journal of dermatology - 1 Sept 2020

Murase Yuya, Tanahashi Kana, Takeichi Takuya, Sugiura Kazumitsu, Aiyama Akiteru, Nishida Keigo, Mitsuma Teruyuki, Akiyama Masashi

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Share to Hyperkeratosis, Epidermolytic
Share to Keratoderma, Palmoplantar
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Identifiers

PMID: 32588446
DOI: 10.1111/1346-8138.15476

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Mild epidermolytic ichthyosis with palmoplantar keratoderma due to the KRT1 mutation p.lle479Thr.PMID 32588446Read ↗

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Heterozygous KRT10 missense variant in a Chihuahua with severe epidermolytic ichthyosis.Semantic proximity Read ↗

Nonsense mutations in KRT1 caused recessive epidermolytic palmoplantar keratoderma with knuckle pads.Semantic proximity Read ↗

Mild phenotype of epidermolytic hyperkeratosis mimicking ichthyosis bullosa of Siemens is related to specific mutation in 2B domain of KRT1.Semantic proximity Read ↗

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Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis.Semantic proximity Read ↗

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