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Article

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

24 Apr 2014

Abstract excerpt

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 stature, advanced bone age, and premature growth cessation....

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Identifiers

PMID: 24762113
DOI: 10.1210/jc.2014-1332

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