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Article

PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption.

American journal of human genetics - 1 Dec 2008

Decker Eva, Stellzig-Eisenhauer Angelika, Fiebig Britta S, Rau Christiane, Kress Wolfram, Saar Kathrin, Rüschendorf Franz, Hubner Norbert, Grimm Tiemo, Weber Bernhard H F

Abstract excerpt

Tooth eruption is a complex developmental process requiring coordinated navigation through alveolar bone and oral epithelium. Primary failure of tooth eruption (PFE) is associated with several syndromes primarily affecting skeletal development, but it is also known as a nonsyndromic autosomal-dominant condition. Teeth in the posterior quadrants of the upper and lower jaw are preferentially affected and usually...

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Share to Chromosomes, Human, Pair 3
Share to Genes, Recessive

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single Nucleotide

Share to Receptor, Parathyroid Hormone, Type 1

Source

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Identifiers

PMID: 19061984
DOI: 10.1016/j.ajhg.2008.11.006
PMCID: PMC2668057

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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