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Article

Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature.

Endocrine journal - 29 Jan 2024

Masunaga Yohei, Ono Hiroyuki, Fujisawa Yasuko, Taniguchi Kiyosu, Saitsu Hirotomo, Ogata Tsutomu

Abstract excerpt

We report three Japanese patients with Sotos syndrome accompanied by marked overgrowth, i.e., a 2 8/12-year-old boy with a height of 105.2 cm (+4.4 SD) (patient 1), the mother of patient 1 with a height of 180.8 cm (+4.1 SD) (patient 2), and a 12 10/12-year-old girl with a height of 189.4 cm (+6.3 SD) (patient 3). In addition to the marked overgrowth (tall stature), patients 1-3 exhibited Sotos...

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PMID: 37989294
DOI: 10.1507/endocrj.EJ23-0502

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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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