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Article

SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Dec 2019

Marzin Pauline, Rondeau Sophie, Aldinger Kimberly A, Alessandri Jean-Luc, Isidor Bertrand, Heron Delphine, Keren Boris, Dobyns William B, Cormier-Daire Valérie

Abstract excerpt

The common genes responsible for overgrowth syndromes play key roles in regulating transcription through histone modification and chromatin modeling. The SETD2 gene encoding a H3K36 trimethyltransferase is implicated in Sotos-like syndrome. This syndrome is characterized by postnatal overgrowth, macrocephaly, obesity, speech delay, and advanced carpal ossification. We report four new patients with constitutional...

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Identifiers

PMID: 31643139
DOI: 10.1002/ajmg.c.31746

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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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SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.PMID 31643139Read ↗

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