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Article

NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2005

Waggoner Darrel J, Raca Gordana, Welch Katherine, Dempsey Melissa, Anderes Ethan, Ostrovnaya Irina, Alkhateeb Asem, Kamimura Junichi, Matsumoto Naomichi, Schaeffer G Bradley, Martin Christa Lese, Das Soma

Abstract excerpt

PURPOSE: Sotos syndrome is a genetic disorder characterized primarily by overgrowth, developmental delay, and a characteristic facial gestalt. Defects in the NSD1 gene are present in approximately 80% of patients with Sotos syndrome. The goal of this study was to determine the incidence of NSD1 a...

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Identifiers

PMID: 16247291
DOI: 10.1097/01.GIM.0000178503.15559.d3

Genes

NSD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16247291-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory.PMID 16247291Read ↗

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