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Article

Identification of Novel NSD1 variations in four Pediatric cases with sotos Syndrome.

BMC medical genomics - 29 Apr 2024

Ren Zhuo, Yue Ling, Hu Hua-Ying, Hou Xiao-Lin, Chen Wen-Qi, Tan Ya, Dong Zhe, Zhang Jing

Abstract excerpt

OBJECTIVE: Sotos syndrome (SOTOS) is an uncommon genetic condition that manifests itself with the following distinctive features: prenatal overgrowth, facial abnormalities, and intellectual disability. This disorder is often associated with haploinsufficiency of the nuclear receptor-binding SET domain protein 1 (NSD1)gene. We investigated four pediatric cases characterized by early-onset overgrowth and...

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Identifiers

PMID: 38684994
DOI: 10.1186/s12920-024-01889-5
PMCID: PMC11059674

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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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