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Article

Striate palmoplantar keratoderma: a novel DSG1 mutation, combined with an LDLR mutation.

Genes & genomics - 1 Jan 2025

He Li, Zhu Guannan

Abstract excerpt

BACKGROUND: Palmoplantar keratoderma (PPK) is a heterogeneous group of disorders characterized by abnormal thickening of the skin on the palms and soles. Striate palmoplantar keratoderma (SPPK) is commonly caused by heterozygous mutations in the desmoglein-1 (DSG1) gene. OBJECTIVE: This study aimed to report a case of a 36-year-old Chinese female patient with SPPK caused by a novel DSG1 gene mutation, along with...

Read the complete abstract on PubMed

Topics

Humans
Female
Keratoderma, Palmoplantar
Adult
Desmoglein 1
Receptors, LDL
Pedigree
Frameshift Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Mutation

Exome Sequencing

Source

Identifiers

PMID: 39503931
DOI: 10.1007/s13258-024-01587-7

Genes

DSG1
LDLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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