A case of osteogenesis imperfecta caused by a <i>COL1A1</i> variant, coexisting with pituitary stalk interruption syndrome-Reference-Cited by-同舟云学术

A case of osteogenesis imperfecta caused by a <i>COL1A1</i> variant, coexisting with pituitary stalk interruption syndrome

Published:2023 Issue:8 Volume:70 Page:839-846
ISSN:0918-8959
Container-title:Endocrine Journal
language:en
Short-container-title:Endocr J

Author:

Kitamura Takuya¹,Ishihara Yuki¹,Kusakabe Toru²,Tsuiki Mika¹,Nanba Kazutaka¹,Hiroshima-Hamanaka Kaho¹,Nomura Takumi¹,Satoh-Asahara Noriko²,Yasoda Akihiro³,Tagami Tetsuya¹

Affiliation:

1. Department of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center, Kyoto 612-8555, Japan

2. Department of Endocrinology, Metabolism, and Hypertension Research, Clinical Research Institute, National Hospital Organization Kyoto Medical Center, Kyoto 612-8555, Japan

3. Clinical Research Institute, National Hospital Organization Kyoto Medical Center, Kyoto 612-8555, Japan

Publisher

Japan Endocrine Society

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://www.jstage.jst.go.jp/article/endocrj/70/8/70_EJ22-0564/_pdf

Reference33 articles.

1. 1 Sillence DO, Senn A, Danks DM (1979) Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 16: 101–116.

2. 2 Lindahl K, Åström E, Rubin CJ, Grigelioniene G, Malmgren B, et al. (2015) Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. Eur J Hum Genet 23: 1042–1050.

3. 3 Tournis S, Dede AD (2018) Osteogenesis imperfecta—A clinical update. Metabolism 80: 27–37.

4. 4 Trejo P, Rauch F (2016) Osteogenesis imperfecta in children and adolescents-new developments in diagnosis and treatment. Osteoporos Int 27: 3427–3437.

5. 5 Maioli M, Gnoli M, Boarini M, Tremosini M, Zambrano A, et al. (2019) Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients. Eur J Hum Genet 27: 1090–1100.

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