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Article

The recurrent TUBB3 Gly98Ser substitution is the first described to inconsistently result in CFEOM3.

American journal of medical genetics. Part A - 1 Sept 2020

Smith Scott C, Olney Ann Haskins, Beavers Angela, Spaulding Joanna, Nelson Marilu, Nielsen Shelly, Sanmann Jennifer N

Abstract excerpt

Missense variants in TUBB3 have historically been associated with either congenital fibrosis of the extraocular muscles type 3 (CFEOM3) or malformations of cortical development (MCD). Until a recent report identified two amino acid substitutions in four patients that had clinical features of both disorders, pathogenic variants of TUBB3 were thought distinct to either respective disorder. Three recurrent de novo...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 32705776
DOI: 10.1002/ajmg.a.61747

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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