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Article

Identification of a novel de novo nonsense mutation of the NSD1 gene in monozygotic twins discordant for Sotos syndrome.

Clinica chimica acta; international journal of clinical chemistry - 1 Jul 2017

Han Ji Yoon, Lee In Goo, Jang Woori, Shin Soyoung, Park Joonhong, Kim Myungshin

Abstract excerpt

INTRODUCTION: Sotos syndrome is a congenital overgrowth disorder characterized by facial gestalt, excessively rapid growth, acromegalic features and a non-progressive cerebral disorder with intellectual disability. METHODOLOGY: The identical male twins showed somewhat different clinical, cognitive and behavioural phenotypes. Abnormal clinical manifestations including seizures, scoliosis, enlarged ventricles, and...

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Source

Identifiers

PMID: 28457852
DOI: 10.1016/j.cca.2017.04.025

Genes

NSD1
DES

Variants

Provenance

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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