Short Stature, Accelerated Bone Maturation, and Early Growth Cessation Due to Heterozygous Aggrecan Mutations

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 t...

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Hlavní autoři: Nilsson, Ola, Guo, Michael H., Dunbar, Nancy, Popovic, Jadranka, Flynn, Daniel, Jacobsen, Christina, Lui, Julian C., Hirschhorn, Joel N., Baron, Jeffrey, Dauber, Andrew
Médium: Artigo
Jazyk:Inglês
Vydáno: Endocrine Society 2014
Témata:
JCEM Online: Advances in Genetics
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4121031/
https://ncbi.nlm.nih.gov/pubmed/24762113
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2014-1332
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