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Article

A clinical study of Sotos syndrome patients with review of the literature.

Pediatric neurology - 1 May 2009

Leventopoulos George, Kitsiou-Tzeli Sophia, Kritikos Konstantinos, Psoni Stavroula, Mavrou Ariadni, Kanavakis Emmanuel, Fryssira Helen

Abstract excerpt

Sotos syndrome is characterized by tall stature, advanced bone age, typical facial abnormalities, and developmental delay. The associated gene is NSD1. The study involved 22 patients who fulfilled the clinical criteria. Phenotypic characteristics, central nervous system findings, and cardiovascular and urinary tract abnormalities were evaluated. Meta-analysis on the incidence of cardinal clinical manifestations...

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Source

Identifiers

PMID: 19380072
DOI: 10.1016/j.pediatrneurol.2008.11.013

Genes

NSD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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