Discover Community Create You

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

Article

[Phenotypic and genetic analysis of a case with hypohidrotic ectodermal dysplasia due to Xq13.1 microdeletion].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Mar 2021

Mei Daoqi, Mei Shiyue, Chen Guohong, Wang Yuan, Wang Xiaona, Zhang Jun, Chen Xiaoyi, Li Dongxiao, Zhang Yaodong

Abstract excerpt

OBJECTIVE: To investigate the clinical phenotype and genetic characteristics of a patient with hypohidrotic ectodermal dysplasia (HED) due to partial deletion of EDA gene. METHODS: The child has presented with HED complicated with epilepsy. Family trio whole exome sequencing (Trio-WES), copy number variation sequencing (CNV-seq), and karyotype analysis were carried out to explore the underlying genetic etiology....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to DNA Copy Number Variations

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

Share to Ectodermal Dysplasia

Share to Ectodermal Dysplasia 1, Anhidrotic

Share to Ectodysplasins

Share to Phenotype

Source

Identifiers

PMID: 33751528
DOI: 10.3760/cma.j.cn511374-20200515-00347

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Phenotypic and genetic analysis of a case with hypohidrotic ectodermal dysplasia due to Xq13.1 microdeletion].PMID 33751528Read ↗

[Clinical and molecular study in a child with X-linked hypohidrotic 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 ↗

First Report of X-Linked Hypohidrotic Ectodermal Dysplasia with a Hemizygous c.1142G >C in the EDA Gene: Variant of Uncertain Significance or New Pathogenic Variant?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 ↗

X-linked hypohidrotic ectodermal dysplasia by a de novo recurrent variant in a Mexican patient.Semantic proximity Read ↗

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

[Whole exome sequencing and analysis of hypohidrotic ectodermal dysplasia patients].Semantic proximity Read ↗

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

[Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia].Semantic proximity Read ↗

Hypohidrotic ectodermal dysplasiaSemantic proximity Read ↗

Ectodermal Dysplasia: A Genetic ReviewSemantic proximity Read ↗

[Genetic testing and genotype-phenotype analysis for a child with X-linked hypohidrotic ectodermal dysplasia].Semantic proximity Read ↗

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