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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2015
Assuntos:
JCEM Online: Advances in Genetics
Acesso em linha: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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