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Article

First Korean Case of 5q35.2q35.3 Microduplication With Reversed Sotos Syndrome Phenotype and Growth Hormone Deficiency: Expanding the Endocrine Spectrum.

American journal of medical genetics. Part A - 1 Jul 2026

Kim Sejin, Ha Jung Sook, Byun Jun Chul

Abstract excerpt

Sotos syndrome is an overgrowth disorder caused by nuclear receptor binding SET domain protein 1 (NSD1) haploinsufficiency, whereas reciprocal 5q35.2q35.3 microduplication produces a reversed phenotype with growth retardation, microcephaly, delayed bone age, and neurodevelopmental delay. We describe a 43-month-old Korean girl born at 36 + 1 weeks with intrauterine growth restriction (birth weight 2200 g, length...

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Source

Identifiers

PMID: 41804817
DOI: 10.1002/ajmg.a.70112

Genes

NSD1
SET

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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First Korean Case of 5q35.2q35.3 Microduplication With Reversed Sotos Syndrome Phenotype and Growth Hormone Deficiency: Expanding the Endocrine Spectrum.PMID 41804817Read ↗

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