[Analysis of clinical feature and genetic variant in a Chinese Han pedigree affected with Darier's disease].

The c.68G>A (p.Gly23Glu) variant in the ATP2A2 gene may be the genetic cause of the disease in this pedigree. This finding further enriches the genetic variant spectrum in DD patients and provides a basis for clinical diagnosis and genetic counseling for patients.

Authors

Jingjun Zhao (ORCID: https://orcid.org/0000-0003-0132-0324)
Shide Zhang
Rong Lin (ORCID: https://orcid.org/0000-0001-9463-8942)
Jiahui Jin (ORCID: https://orcid.org/0000-0003-2546-5632)
Miao Jiang (ORCID: https://orcid.org/0000-0002-5628-7034)

Institutions

Fujian University of Traditional Chinese Medicine (CN)

Publication Details

Journal: PubMed
Published: 2025-02-10
DOI: https://doi.org/10.3760/cma.j.cn511374-20240908-00477
Primary Topic: Genetic and rare skin diseases.
Type: article
Field-Weighted Citation Impact: 0.00

Controls

|||

ALL TIME

JAN

FEB

MAR

APR

MAY

JUN

JUL

AUG

SEP

OCT

article

[Analysis of clinical feature and genetic variant in a Chinese Han pedigree affected with Darier's disease].

Jingjun Zhao, Shide Zhang, Rong Lin, Jiahui Jin et al.

Feb 10, 2025

1 links

PubMed

Genetic and rare skin diseases.

article

[Analysis of clinical feature and genetic variant in a Chinese Han pedigree affected with Darier's disease].

Jingjun Zhao, Shide Zhang, Rong Lin, Jiahui Jin, Miao Jiang

February 10, 2025article en

Abstract

The c.68G>A (p.Gly23Glu) variant in the ATP2A2 gene may be the genetic cause of the disease in this pedigree. This finding further enriches the genetic variant spectrum in DD patients and provides a basis for clinical diagnosis and genetic counseling for patients.

PubMedVol. 42(2)

Fujian University of Traditional Chinese Medicine (CN)

Openalex Percentile: Top 88%

Genetic and rare skin diseases.

DOI Source OpenAlex

AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.

[Analysis of clinical feature and genetic variant in a Chinese Han pedigree affected with Darier's disease]. — Jingjun Zhao, Shide Zhang, et al. · PubMed (2025) | TGRS Research Map | TGRS