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 missense mutation in PAX9 in a family with distinct phenotype of oligodontia.

European journal of human genetics : EJHG - 1 Nov 2003

Lammi Laura, Halonen Katri, Pirinen Sinikka, Thesleff Irma, Arte Sirpa, Nieminen Pekka

Abstract excerpt

Mutations in PAX9 have been described for families in which inherited oligodontia characteristically involves permanent molars. Our study analysed one large family with dominantly inherited oligodontia clinically and genetically. In addition to permanent molars, some teeth were congenitally missing in the premolar, canine, and incisor regions. Measurements of tooth size revealed the reduced size of the proband's...

Read the complete abstract on PubMed

Topics

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

Share to Radiography
Share to Anodontia
Share to Family Health

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to PAX9 Transcription Factor

Share to Sequence Homology, Amino Acid

Source

Identifiers

PMID: 14571272
DOI: 10.1038/sj.ejhg.5201060

Genes

PAX9
PAX6

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A missense mutation in PAX9 in a family with distinct phenotype of oligodontia.PMID 14571272Read ↗

Identification of a nonsense mutation in the PAX9 gene in molar oligodontia.Semantic proximity Read ↗

Functional study of novel PAX9 variants: The paired domain and non-syndromic oligodontia.Semantic proximity Read ↗

PAX9 gene mutations and tooth agenesis: A review.Semantic proximity Read ↗

A novel mutation in human PAX9 causes molar oligodontia.Semantic proximity Read ↗

Identification of a novel mutation in the PAX9 gene in a family affected by oligodontia and other dental anomalies.Semantic proximity Read ↗

A Novel Mutation in Human PAX9 Causes Molar OligodontiaSemantic proximity Read ↗

Novel missense mutations in PAX9 causing oligodontia.Semantic proximity Read ↗

Novel missense mutation in PAX9 gene associated with familial tooth agenesis.Semantic proximity Read ↗

Mutation of PAX9 is associated with oligodontia.Semantic proximity Read ↗

A 223-kb de novo deletion of PAX9 in a patient with oligodontia.Semantic proximity Read ↗

A novel nonsense mutation in PAX9 is associated with marked variability in number of missing teeth.Semantic proximity Read ↗

A novel PAX9 mutation causing oligodontia.Semantic proximity Read ↗

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