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Article

A Novel Deletion of IGF1 in a Patient With Idiopathic Short Stature Provides Insight Into IGF1 Haploinsufficiency

16 Nov 2013

Abstract excerpt

CONTEXT: Short stature is a common reason for referral to pediatric endocrinology centers. Frequently, the underlying etiology of short stature is unknown, resulting in a diagnosis of idiopathic short stature. Rare genetic defects in the GH/IGF-1 axis have been found to cause short stature. OBJECTIVE: The objective of this study was to identify the genetic etiology of short stature in a patient with Idiopathic...

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PMID: 24243634
DOI: 10.1210/jc.2013-3106

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