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Article

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

Journal of human genetics - 1 Jan 2008

Rasool Mahmood, Schuster Jens, Aslam Muhammad, Tariq Muhammad, Ahmad Ilyas, Ali Amjad, Entesarian Miriam, Dahl Niklas, Baig Shahid Mahmood

Abstract excerpt

Isolated hypodontia, or congenital absence of one to six permanent teeth (OMIM 300606), is a common condition that affects about 20% of individuals worldwide. We identified two extended Pakistani pedigrees segregating X-linked hypodontia with variable expressivity. Affected males show no other associated anomalies, and obligate carrier females have normal dentition. We analyzed the families with polymorphic...

Read the complete abstract on PubMed

Topics

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Share to Amino Acid Substitution
Share to Anodontia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, X

Share to Ectodysplasins

Share to Genes, Recessive

Share to Mutation, Missense

Share to Protein Folding

Share to Recombination, Genetic

Source

Identifiers

PMID: 18688569
DOI: 10.1007/s10038-008-0323-x

Genes

EDA
TNF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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