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Article

Tatton-Brown-Rahman syndrome: Six individuals with novel features.

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

Balci Tugce B, Strong Alana, Kalish Jennifer M, Zackai Elaine, Maris John M, Reilly Anne, Surrey Lea F, Wertheim Gerald B, Marcadier Julien L, Graham Gail E, Carter Melissa T

Abstract excerpt

Tatton-Brown Rahman syndrome (TBRS) is an overgrowth-intellectual disability syndrome caused by heterozygous variants in DNMT3A. Seventy-eight individuals have been reported with a consistent phenotype of somatic overgrowth, mild to moderate intellectual disability, and similar dysmorphisms. We present six individuals with TBRS, including the youngest individual thus far reported, first individual to be diagnosed...

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Identifiers

PMID: 31961069
DOI: 10.1002/ajmg.a.61475

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

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Tatton-Brown-Rahman syndrome: Six individuals with novel features.PMID 31961069Read ↗

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