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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Bibliografiset tiedot
Julkaisussa:J Clin Endocrinol Metab
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Endocrine Society 2015
Aiheet:
JCEM Online: Advances in Genetics
Linkit: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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