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

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. OBJECTIV...

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Autori principali: Batey, Lara, Moon, Jennifer E., Yu, Yongguo, Wu, Bingbing, Hirschhorn, Joel N., Shen, Yiping, Dauber, Andrew
Natura: Artigo
Lingua:Inglês
Pubblicazione: Endocrine Society 2014
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3879666/
https://ncbi.nlm.nih.gov/pubmed/24243634
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2013-3106
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