Article
An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.
The Journal of clinical endocrinology and metabolism - 1 May 2015
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
Abstract excerpt
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 microcephaly. OBJECTIVE: To identify an underlying genetic etiology in two siblings with severe short stature and...
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