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Article

Fork-shaped mandibular incisors as a novel phenotype of LRP5-associated disorder.

American journal of medical genetics. Part A - 1 May 2021

Yamada Mamiko, Kubota Kazumi, Uchida Atsuro, Yagihashi Tatsuhiko, Kawasaki Masahito, Suzuki Hisato, Uehara Tomoko, Takenouchi Toshiki, Kurosaka Hiroshi, Kosaki Kenjiro

Abstract excerpt

The LRP5 gene encodes a Wnt signaling receptor to which Wnt binds directly. In humans, pathogenic monoallelic variants in LRP5 have been associated with increased bone density and exudative vitreoretinopathy. In mice, LRP5 plays a role in tooth development, including periodontal tissue stability and cementum formation. Here, we report a 14-year-old patient with a de novo non-synonymous variant, p.(Val1245Met), in...

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Identifiers

PMID: 33619830
DOI: 10.1002/ajmg.a.62132

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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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