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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Pubblicato in:J Clin Endocrinol Metab
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Endocrine Society 2015
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JCEM Online: Advances in Genetics
Accesso online: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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