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

A novel missense mutation in the ectodysplasin-A (EDA) gene underlies X-linked recessive nonsyndromic hypodontia.

International journal of dermatology - 1 Dec 2010

Ayub Muhammad, ur-Rehman Fazal, Yasinzai Masoom, Ahmad Wasim

Abstract excerpt

BACKGROUND: Nonsyndromic hypodontia or congential absence of one or more permanent teeth is a common anomaly of dental development in humans. This condition may be inherited in an autosomal (dominant/recessive) or X-linked (dominant/recessive) mode. Mutations in three genes, PAX9, MSX1, and AXIN2...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Chromosomes, Human, X
Share to Ectodermal Dysplasia 1, Anhidrotic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ectodysplasins

Share to Genotype

Share to Mutation, Missense

Share to Pedigree

Share to Signal Transduction

Source

Identifiers

PMID: 21091672
DOI: 10.1111/j.1365-4632.2010.04596.x

Genes

EDA
AXIN2
EDAR
EDARADD
MSX1
PAX9

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21091672-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel missense mutation in the ectodysplasin-A (EDA) gene underlies X-linked recessive nonsyndromic hypodontia.PMID 21091672Read ↗

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 ↗

Non-syndromic tooth agenesis associated with a nonsense mutation in ectodysplasin-A (EDA).Semantic proximity Read ↗

A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia.Semantic proximity Read ↗

De novo EDA mutations: Variable expression in two Egyptian families.Semantic proximity Read ↗

Functional Analysis of Ectodysplasin-A Mutations in X-Linked Non-Syndromic Hypodontia and Possible Involvement of X-Chromosome InactivationSemantic proximity Read ↗

Oligodontia and curly hair occur with ectodysplasin-a mutations.Semantic proximity Read ↗

Functional analysis of Ectodysplasin-A mutations in X-linked non-syndromic hypodontia and possible involvement of X-chromosome inactivationSemantic proximity Read ↗

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

Identification of six novel mutations in EDA from 20 hypohidrotic ectodermal dysplasia families.Semantic proximity Read ↗

A novel EDAR missense mutation identified by whole-exome sequencing with non-syndromic tooth agenesis in a Chinese family.Semantic proximity Read ↗

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

[Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia].Semantic proximity Read ↗

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