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Article

Deciphering Growth Patterns in Korean Children With Sotos Syndrome Through the Development of a Disease-Specific Growth Chart.

Molecular genetics & genomic medicine - 1 Nov 2024

Choi Naye, Kim Hwa Young, Ko Jung Min

Abstract excerpt

BACKGROUND: Sotos syndrome (SS) is a rare disorder characterized by overgrowth, distinctive facial features, and intellectual disability that is primarily caused by NSD1 pathogenic variants or 5q35 microdeletions. METHODS: We retrospectively analyzed the clinical characteristics and 339 anthropometric measurements over an average of 4.3 years of follow-up in 57 Korean children with SS. Sex-specific percentile...

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PMID: 39494594
DOI: 10.1002/mgg3.70028
PMCID: PMC11532833

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