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Article

Cryptophthalmos, dental anomalies, oral vestibule defect, and a novel FREM2 mutation.

Journal of human genetics - 1 Feb 2022

Kantaputra Piranit Nik, Wangtiraumnuay Nutsuchar, Ngamphiw Chumpol, Olsen Bjorn, Intachai Worrachet, Tucker Abigail S, Tongsima Sissades

Abstract excerpt

FREM2 is a member of the FREM2-FRAS1-FREM1 protein complex which contributes to epithelial-mesenchymal coupling. We report a Thai woman with cryptophthalmos, dental anomalies, and oral vestibule defect. A compound heterozygous mutation (c.6499C>T; p.Arg2167Trp and c.641_642del; p.Glu214GlyfsTer135) in the FREM2 gene was identified. The frameshift variant p.Glu214GlyfsTer135 is de novo and novel. It is predicted...

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PMID: 34408272
DOI: 10.1038/s10038-021-00972-4

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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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