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

Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.

American journal of human genetics - 1 Apr 2009

Noor Abdul, Windpassinger Christian, Vitcu Irina, Orlic Marija, Rafiq Muhammad Arshad, Khalid Mahwish, Malik Mahmood Nasir, Ayub Muhammad, Alman Benjamin, Vincent John B

Abstract excerpt

We have identified a consanguineous Pakistani family where oligodontia is inherited along with short stature in an autosomal-recessive fashion. Increased bone density was present in the spine and at the base of the skull. Using high-density single-nucleotide polymorphism microarrays for homozygosity mapping, we identified a 28 Mb homozygous stretch shared between affected individuals on chromosome 11q13....

Read the complete abstract on PubMed

Topics

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

Share to Anodontia
Share to Body Height

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Bone Density

Share to Bone Development

Share to Chromosomes, Human, Pair 11

Share to Codon, Nonsense

Share to Latent TGF-beta Binding Proteins

Share to Pakistan

Source

Open in PubMed Open full text

Identifiers

PMID: 19344874
DOI: 10.1016/j.ajhg.2009.03.007
PMCID: PMC2667979

Genes

LTBP3

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

Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.PMID 19344874Read ↗

Bi-allelic loss-of-function novel variants in LTBP3-related skeletal dysplasia: Report of first patient from India.Semantic proximity Read ↗

New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse.Semantic proximity Read ↗

Expanded phenotypes and pathogenesis of geleophysic dysplasia 3 resulted from a de novo LTBP3 mutation: A case report.Semantic proximity Read ↗

A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3.Semantic proximity Read ↗

[IDENTIFICATION OF A NOVEL LTBP3 GENE PATHOGENIC VARIANT IN DRUZE ARAB PATIENTS PRESENTED WITH SYNDROMIC SHORT STATURE WITH BRACHYOLMIA AND AMELOGENESIS IMPERFECTA].Semantic proximity Read ↗

LTBP3 Frameshift Variant in British Shorthair Cats with Complex Skeletal Dysplasia.Semantic proximity Read ↗

Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3.Semantic proximity Read ↗

Common variants in GNL3 gene contributed the susceptibility of hand osteoarthritis in Han Chinese population.Semantic proximity Read ↗

PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants.Semantic proximity Read ↗

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfectaSemantic proximity Read ↗

Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome.Semantic proximity Read ↗

Common variants in LTBP3 gene contributed to the risk of hip osteoarthritis in Han Chinese population.Semantic proximity Read ↗

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