Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations.

Abstract

CONTEXT Many children with idiopathic short stature have a delayed bone age. Idiopathic short stature with advanced bone age is far less common. OBJECTIVE The aim was to identify underlying genetic causes of short stature with advanced bone age. SETTING AND DESIGN We used whole-exome sequencing to study three families with autosomal-dominant short… (More)
DOI: 10.1210/jc.2014-1332

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@article{Nilsson2014ShortSA, title={Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations.}, author={Ola Nilsson and Michael H. Guo and Nancy S Dunbar and Jadranka Popovic and D. Flynn and Christina Jacobsen and Julian C. Lui and Joel Hirschhorn and Jeffrey A. Baron and Andrew Dauber}, journal={The Journal of clinical endocrinology and metabolism}, year={2014}, volume={99 8}, pages={E1510-8} }