<i>ACAN</i> mutations as a cause of familial short stature-Reference-Cited by-同舟云学术

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ACAN mutations as a cause of familial short stature

Published:2017 Issue:3 Volume:26 Page:119-125
ISSN:0918-5739
Container-title:Clinical Pediatric Endocrinology
language:en
Short-container-title:Clin Pediatr Endocrinol

Author:

Dateki Sumito¹

Affiliation:

1. Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, 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/26/3/26_2017-0013/_pdf

Reference18 articles.

1. 1. Baron, J, Sävendahl, L, De Luca, F, Dauber, A, Phillip, M, Wit, JM, et al. Short and tall stature: a new paradigm emerges. Nat Rev Endocrinol 2015;11: 735–46.

2. 2. Roughley, PJ, Mort, JS. The role of aggrecan in normal and osteoarthritic cartilage. J Exp Orthop 2014;1: 8.

3. 3. Tompson, SW, Merriman, B, Funari, VA, Fresquet, M, Lachman, RS, Rimoin, DL, et al. A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan. Am J Hum Genet 2009;84: 72–9.

4. 4. Nilsson, O, Guo, MH, Dunbar, N, Popovic, J, Flynn, D, Jacobsen, C, et al. Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations. J Clin Endocrinol Metab 2014;99: E1510–8.

5. 5. Quintos, JB, Guo, MH, Dauber, A. Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene. J Pediatr Endocrinol Metab 2015;28: 927–32.

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