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

Article

Two Novel Mutations in Ectodysplasin-A Identified in Syndromic Tooth Agenesis.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP - 1 May 2022

Xie Weihong, Zeng Binghui, Li Pei, Xu Duoling, Yu Dongsheng, Zhao Wei

Abstract excerpt

OBJECTIVE: To discover novel ectodysplasin-A (EDA) and wingless-type MMTV integration site family, member 10A (WNT10A) mutations in tooth agenesis (TA) patients. STUDY DESIGN: Case series. PLACE AND DURATION OF STUDY: Guanghua School of Stomatology, Guangzhou, China, from March 2018 to August 2020. METHODOLOGY: EDA and WNT10A were analysed in eleven TA families by PCR and Sanger sequencing. Bioinformatics and...

Topics

Join the communities discussing this publication.

Anodontia
Ectodysplasins
Exome Sequencing
Mutation
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 35546689
DOI: 10.29271/jcpsp.2022.05.570

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.

0

discussions

0

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

Two Novel Mutations in Ectodysplasin-A Identified in Syndromic Tooth Agenesis.PMID 35546689Read ↗

Novel Ectodysplasin-A Variants: Structural and Functional Basis of Hypohidrotic Ectodermal DysplasiaSemantic proximity Read ↗

Genotypic and phenotypic correlations in tooth agenesis: insights from WNT10A and EDA mutations in syndromic and non-syndromic forms.Semantic proximity Read ↗

Eight EDA mutations in Chinese patients with tooth agenesis and genotype-phenotype analysis.Semantic proximity Read ↗

Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

EDA Variants Are Responsible for Approximately 90% of Deciduous Tooth Agenesis.Semantic proximity Read ↗

Mutation analysis in patients with nonsyndromic tooth agenesis using exome sequencing.Semantic proximity Read ↗

A novel EDAR variant identified in non-syndromic tooth agenesis: Insights from molecular dynamics.Semantic proximity Read ↗

Whole genome sequencing reveals novel non-synonymous mutation in ectodysplasin A (EDA) associated with non-syndromic X-linked dominant congenital tooth agenesis.Semantic proximity Read ↗

Expanding the genetic spectrum of tooth agenesis using whole-exome sequencing.Semantic proximity Read ↗

Deleterious Variants in WNT10A, EDAR, and EDA Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations.Semantic proximity Read ↗

[EDA mutation screening and phenotype analysis in patients with tooth agenesis].Semantic proximity Read ↗

Tooth agenesis: What do we know and is there a connection to cancer?Semantic proximity Read ↗

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