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Article

A KRT1 gene mutation related to epidermolytic ichthyosis in a Chinese family.

Clinical and experimental dermatology - 1 Dec 2015

Ji Y Z, Bai Y, Wang S, Li F Q

Abstract excerpt

We report a Chinese family with members affected by epidermolytic ichthyosis (EI), caused by KRT gene mutations. The proband was a 14-year-old boy who had simultaneous appearance of nephroblastoma and epidermolytic ichthyosis (EI). Both the patient and his mother exhibited the specific clinical and pathological manifestations of EI. We analysed all exons and flanking sequences of the KRT1 and KRT10 genes using...

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Source

Identifiers

PMID: 25808222
DOI: 10.1111/ced.12649

Genes

KRT1
KRT10
GAA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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