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Article

Hypoparathyroidism in a 3-year-old Korean boy with Sotos syndrome and a novel mutation in NSD1.

Annals of clinical and laboratory science - 1 Jan 2015

Wejaphikul Karn, Cho Sung Yoon, Huh Rimm, Kwun Younghee, Lee Jieun, Ki Chang-Seok, Jin Dong-Kyu

Abstract excerpt

Sotos syndrome is a common genetic overgrowth syndrome caused by a mutation of the NSD1 gene, which is located at chromosome 5q35 and normally encodes a histone methyltransferase protein. The general characteristics of this syndrome include a characteristic facial appearance, developmental delay, and overgrowth, resulting in macrocephaly and tall stature. We describe rhabdomyolysis and hypocalcemia due to...

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Source

Identifiers

PMID: 25887879

Genes

NSD1

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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