A novel ATP2A2 mutation in Darier and genotype phenotype: correlation analysis.

doi:10.1007/s13258-024-01592-w

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Article

A novel ATP2A2 mutation in Darier and genotype phenotype: correlation analysis.

Genes & genomics - 1 Jan 2025

Guo Xiaofen, Du Juan, Lv Mingwei, Hu Yi, Zhen Qi, Chen Weiwei, Wang Yirui, Li Zhuo, Liu Chunmeng, Feng Xinyu, Niu Wanli, Zhang Yu, Han Yang, Sun Liangdan

Abstract excerpt

BACKGROUND: Darier's disease (DD) is a skin disorder caused by mutations in the ATP2A2 gene. Researchers have been investigating the correlation between genotype and phenotype in DD. Understanding the genotype-phenotype relationship in DD can enhance our comprehension of the genetic background and phenotypic characteristics of the condition, as well as the relationship between its systemic and localized...

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Topics

Humans
Darier Disease
Female
Male
Mutation, Missense
Sarcoplasmic Reticulum Calcium-Transporting ATPases

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

Genetic Association Studies

Adult

Pedigree

Phenotype

Genotype

Exome Sequencing

Middle Aged

Source

Open in PubMed

Identifiers

PMID: 39528793
DOI: 10.1007/s13258-024-01592-w

Genes

ATP2A2

Variants

Provenance

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