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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Vydáno v:J Clin Endocrinol Metab
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Endocrine Society 2015
Témata:
JCEM Online: Advances in Genetics
On-line přístup: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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