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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Veröffentlicht in:	The journal of clinical endocrinology and metabolism 2015-05, Vol.100 (5), p.E789-E798
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Body Height - genetics DNA-Binding Proteins - genetics Exome Female Humans Hypogonadism - genetics JCEM Online: Advances in Genetics Male Metabolic Syndrome - genetics Mutation Polymorphism, Single Nucleotide Siblings
Online-Zugang:	Volltext
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