Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea.

doi:10.1186/s13023-024-03331-6

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Topics Community

Back to search

Article

Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea.

Orphanet journal of rare diseases - 7 Sept 2024

Kim Man Jin, Lee Jee-Soo, Chae Seung Won, Cho Sung Im, Moon Jangsup, Ko Jung Min, Chae Jong-Hee, Seong Moon-Woo

Abstract excerpt

BACKGROUND: Ectodermal dysplasia (ED) is a rare genetic disorder that affects structures derived from the ectodermal germ layer. RESULTS: In this study, we analyzed the genetic profiles of 27 Korean patients with ED. Whole exome sequencing (WES) was performed on 23 patients, and targeted panel sequencing was conducted on the remaining 4 patients. Among the patients in the cohort, 74.1% (20/27) tested positive for...

Topics

Humans
Ectodermal Dysplasia
Republic of Korea
Male
Female
Exome Sequencing
Mutation
Child
DNA Copy Number Variations
Genetic Profile
Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Adult

Adolescent

Edar Receptor

Ectodysplasins

Infant

Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 39244550
DOI: 10.1186/s13023-024-03331-6
PMCID: PMC11380769

Genes

EDA
EDAR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea.PMID 39244550Read ↗

Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations.Semantic proximity Read ↗

Hypohidrotic Ectodermal Dysplasias: Phenotypic and Genotypic Findings in 32 Cases.Semantic proximity Read ↗

Next generation sequencing panel target genes: possible diagnostic tool for ectodermal dysplasia related diseases.Semantic proximity Read ↗

A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia.Semantic proximity Read ↗

EDA mutation as a cause of hypohidrotic ectodermal dysplasia: a case report and review of the literature.Semantic proximity Read ↗

Ectodermal dysplasias: not only 'skin' deep.Semantic proximity Read ↗

Clinical and Molecular Genetic Analysis of Cases with Ectodermal Dysplasia.Semantic proximity Read ↗

Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

Prevalence and Patient Characteristics of Ectodermal Dysplasias in DenmarkSemantic proximity Read ↗

Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathwaySemantic proximity Read ↗

Next-generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands.Semantic proximity Read ↗

Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.