An XRCC4 Splice Mutation Associated With Severe Short Stature, Gonadal Failure, and Early-Onset Metabolic Syndrome

CONTEXT: Severe short stature can be caused by defects in numerous biological processes including defects in IGF-1 signaling, centromere function, cell cycle control, and DNA damage repair. Many syndromic causes of short stature are associated with medical comorbidities including hypogonadism and mi...

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Bibliographic Details
Published in:J Clin Endocrinol Metab
Main Authors: de Bruin, Christiaan, Mericq, Verónica, Andrew, Shayne F., van Duyvenvoorde, Hermine A., Verkaik, Nicole S., Losekoot, Monique, Porollo, Aleksey, Garcia, Hernán, Kuang, Yi, Hanson, Dan, Clayton, Peter, van Gent, Dik C., Wit, Jan M., Hwa, Vivian, Dauber, Andrew
Format: Artigo
Language:Inglês
Published: Endocrine Society 2015
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JCEM Online: Advances in Genetics
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4422886/
https://ncbi.nlm.nih.gov/pubmed/25742519
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2015-1098
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