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Article

Exclusion of ferrochelatase gene mutations in patients with seasonal palmoplantar keratoderma.

Cellular and molecular biology (Noisy-le-Grand, France) - 1 Jul 2009

Schimmel R J, Van Tuyll Van Serooskerke A M, Bladergroen R S, Van Steensel A M, van Geel M, Pasmans S G M A, Frank J

Abstract excerpt

Erythropoietic protoporphyria (EPP) is an autosomal dominant disorder that results from a deficiency of ferrochelatase (FECH), the last enzyme in the heme biosynthetic pathway. The characteristic clinical symptoms usually manifest in early childhood on the sun-exposed areas of the body. They are...

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Source

Identifiers

PMID: 19656459

Genes

FECH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19656459-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Exclusion of ferrochelatase gene mutations in patients with seasonal palmoplantar keratoderma.PMID 19656459Read ↗

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Exclusion of CTSB and FDFT1 as positional and functional candidate genes for keratolytic winter erythema (KWE).Semantic proximity Read ↗

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Autosomal recessive epidermolytic palmoplantar keratoderma.Semantic proximity Read ↗

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