Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature
Author:
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/s41598-017-12465-6.pdf
Reference33 articles.
1. Seaver, L. H. & Irons, M. American College of Medical Genetics Professional, P. & Guidelines, C. ACMG practice guideline: genetic evaluation of short stature. Genet Med 11, 465–70 (2009).
2. Bonafe, L. et a.l Nosology and classification of genetic skeletal disorders: 2015 revision. Am J Med Genet A (2015).
3. Jee, Y. H. & Baron, J. The Biology of Stature. J Pediatr 173, 32–8 (2016).
4. Abad, V. et al. The role of the resting zone in growth plate chondrogenesis. Endocrinology 143, 1851–7 (2002).
5. Kember, N. F. & Walker, K. V. Control of bone growth in rats. Nature 229, 428–9 (1971).
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