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Article

Diagnosis of TET3-Related Beck-Fahrner Syndrome in an Individual With Chorioretinal and Iris Colobomata Using a DNA Methylation Signature.

American journal of medical genetics. Part A - 1 Feb 2025

Man Alice, Di Scipio Matteo, McConkey Haley, Hough Rebecca, Stein Nina, Diehl Eric, Marshall Christian R, Sadikovic Bekim, Ejaz Resham

Abstract excerpt

Disorders of developmental delay can occur from pathogenic variants in genes responsible for epigenetic regulation. Heterozygous and biallelic pathogenic variants in TET3 have recently been described in TET3-related Beck-Fahrner syndrome (TET3-BEFAHRS), representing an autosomal dominant disorder with variable expressivity. Typical features include intellectual disability and developmental delay. Patients can...

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Identifiers

PMID: 39324309
DOI: 10.1002/ajmg.a.63864

Genes

TET3

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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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