Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic <i>NSD1</i> variants: case reports with review of literature-Reference-Cited by-同舟云学术

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

Published:2024 Issue:1 Volume:71 Page:75-81
ISSN:0918-8959
Container-title:Endocrine Journal
language:en
Short-container-title:Endocr J

Author:

Masunaga Yohei¹^ORCID,Ono Hiroyuki²,Fujisawa Yasuko¹,Taniguchi Kiyosu³,Saitsu Hirotomo⁴,Ogata Tsutomu¹

Affiliation:

1. Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan

2. Department of Pediatrics, JA Shizuoka Kohseiren Enshu Hospital, Hamamatsu 430-0929, Japan

3. Department of Pediatrics, NHO Mie National Hospital, Tsu 514-0125, Japan

4. Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan

Publisher

Japan Endocrine Society

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://www.jstage.jst.go.jp/article/endocrj/71/1/71_EJ23-0502/_pdf

Reference16 articles.

1. 1 Tatton-Brown K, Cole TRP, Rahman N (2004) Sotos Syndrome. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, et al. (eds) GeneReviews. University of Washington, Seattle, USA: 1993–2023.

2. 2 Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondoh T, et al. (2002) Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet 30: 365–366.

3. 3 Agwu JC, Shaw NJ, Kirk J, Chapman S, Ravine D, et al. (1999) Growth in Sotos syndrome. Arch Dis Child 80: 339–342.

4. 4 Manor J, Lalani SR (2020) Overgrowth syndromes-evaluation, diagnosis, and management. Front Pediatr 8: 574857.

5. 5 Masunaga Y, Nishimura G, Takahashi K, Hishiyama T, Imamura M, et al. (2022) Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG). Sci Rep 12: 17079.