Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature-Reference-Cited by-同舟云学术

Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature

Published:2017 Issue:10 Volume:64 Page:947-954
ISSN:0918-8959
Container-title:Endocrine Journal
language:en
Short-container-title:Endocr J

Author:

Hattori Atsushi¹²,Katoh-Fukui Yuko¹,Nakamura Akie¹,Matsubara Keiko¹,Kamimaki Tsutomu³,Tanaka Hiroyuki⁴,Dateki Sumito⁵,Adachi Masanori⁶,Muroya Koji⁶,Yoshida Shinobu⁷,Ida Shinobu⁸,Mitani Marie³,Nagasaki Keisuke⁹,Ogata Tsutomu¹⁰,Suzuki Erina¹,Hata Kenichiro¹¹,Nakabayashi Kazuhiko¹¹,Matsubara Yoichi²¹²,Narumi Satoshi¹,Tanaka Toshiaki¹³,Fukami Maki¹

Affiliation:

1. Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan

2. Department of Advanced Pediatric Medicine, Tohoku University School of Medicine, Tokyo 157-8535, Japan

3. Department of Pediatrics, Shizuoka City Shimizu Hospital, Shizuoka 424-8636, Japan

4. Department of Pediatrics, Okayama Saiseikai General Hospital, Okayama 700-8511, Japan

5. Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki 852-8501, Japan

6. Department of Endocrinology and Metabolism, Kanagawa Children’s Medical Center, Yokohama 232-8555, Japan

7. Department of Pediatrics, Omihachiman Community Medical Center, Omihachiman 523-0082, Japan

8. Department of Gastroenterology and Endocrinology, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi 594-1101, Japan

9. Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata 951-8520, Japan

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

11. Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan

12. Institute director, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan

13. Tanaka Growth Clinic, Tokyo 158-0097, Japan

Publisher

Japan Endocrine Society

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://www.jstage.jst.go.jp/article/endocrj/64/10/64_EJ17-0150/_pdf

Reference29 articles.

1. 1. Dauber A, Rosenfeld RG, Hirschhorn JN (2014) Genetic evaluation of short stature. J Clin Endocrinol Metab 99: 3080-3092.

2. 2. Baron J, Sävendahl L, De Luca F, Dauber A, Phillip M, et al. (2015) Short and tall stature: a new paradigm emerges. Nat Rev Endocrinol 11: 735-746.

3. 3. Wit JM, Oostdijk W, Losekoot M, van Duyvenvoorde HA, Ruivenkamp CA, et al. (2016) Mechanisms in endocrinology: novel genetic causes of short stature. Eur J Endocrinol 174: R145-R173.

4. 4. Fukami M, Seki A, Ogata T (2016) SHOX haploinsufficiency as a cause of syndromic and nonsyndromic short stature. Mol Syndromol 7: 3-11.

5. 5. Marstrand-Joergensen MR, Jensen RB, Aksglaede L, Duno M, Juul A (2017) Prevalence of SHOX haploinsufficiency among short statured children. Pediatr Res 81: 335-341.

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