A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of a <i>GALNT3</i> variant-Reference-Cited by-同舟云学术

A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of a <i>GALNT3</i> variant

Published:2023 Issue:3 Volume:32 Page:161-167
ISSN:0918-5739
Container-title:Clinical Pediatric Endocrinology
language:en
Short-container-title:Clin Pediatr Endocrinol

Author:

Nishimura-Kinoshita Naoko¹,Ohata Yasuhisa²,Sawai Hiromi³,Izawa Masako⁴,Takeyari Shinji²,Kubota Takuo²,Omae Yosuke³,Ozono Keiichi²,Tokunaga Katsushi³,Hamajima Takashi⁴

Affiliation:

1. Department of Pediatrics, Tango Central Hospital, Kyoto, Japan

2. Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan

3. Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan

4. Department of Endocrinology and Metabolism, Aichi Children’s Health and Medical Center, Aichi, Japan

Publisher

Japanese Society for Pediatric Endocrinology

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Link

https://www.jstage.jst.go.jp/article/cpe/32/3/32_2022-0071/_pdf

Reference22 articles.

1. 1. Ramnitz, MS, Gourh, P, Goldbach-Mansky, R, Wodajo, F, Ichikawa, S, Econs, MJ, et al. Phenotypic and genotypic characterization and treatment of a cohort with familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome. J Bone Miner Res 2016;31: 1845–54.

2. 2. Boyce, AM, Lee, AE, Roszko, KL, Gafni, RI. Hyperphosphatemic tumoral calcinosis: pathogenesis, clinical presentation, and challenges in management. Front Endocrinol (Lausanne) 2020;11: 293.

3. 3. Engel, E. A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements. Eur J Hum Genet 2006;14: 1158–69.

4. 4. Robinson, WP. Mechanisms leading to uniparental disomy and their clinical consequences. BioEssays 2000;22: 452–9.

5. 5. Yamazawa, K, Ogata, T, Ferguson-Smith, AC. Uniparental disomy and human disease: an overview. Am J Med Genet C Semin Med Genet 2010;154C: 329–34.

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