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Article

Tatton-Brown-Rahman syndrome due to 2p23 microdeletion.

American journal of medical genetics. Part A - 1 May 2016

Okamoto Nobuhiko, Toribe Yasuhisa, Shimojima Keiko, Yamamoto Toshiyuki

Abstract excerpt

Tatton-Brown-Rahman syndrome is a new overgrowth syndrome due to DNMT3A (DNA cytosine 5 methyltransferase 3A) mutations. Mutation carriers show a distinctive facial appearance, intellectual disability, and increased height. We report a patient with overgrowth who showed submicroscopic deletion of chromosome 2p23 including DNMT3A. The deletion was detected by array-CGH. He showed moderate ID and distinctive facial...

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Share to Abnormalities, Multiple
Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26866722
DOI: 10.1002/ajmg.a.37588

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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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