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Article

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

American journal of medical genetics. Part A - 1 Jun 2015

Dugan Sarah L, Temme Renee T, Olson Rebecca A, Mikhailov Anna, Law Rosalind, Mahmood Huda, Noor Abdul, Vincent John B

Abstract excerpt

Latent TGFB-binding protein 3 (LTBP3) is known to increase bio-availability of TGFB. A homozygous mutation in this gene has previously been associated with oligodontia and short stature in a single family. We report on two sisters with homozygous truncating mutations in LTBP3. In addition to oligodontia and short stature, both sisters have mitral valve prolapse, suggesting a link between truncating LTBP3...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25899461
DOI: 10.1002/ajmg.a.37049

Genes

LTBP3

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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