Klinefelter syndrome comorbidities linked to increased X chromosome gene dosage and altered protein interactome activity

Klinefelter syndrome (KS) (47,XXY) is the most common male sex chromosome aneuploidy. Diagnosis and clinical supervision remain a challenge due to varying phenotypic presentation and insufficient characterization of the syndrome. Here we combine health data-driven epidemiology and molecular level sy...

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Vydáno v:Hum Mol Genet
Hlavní autoři: Belling, Kirstine, Russo, Francesco, Jensen, Anders B., Dalgaard, Marlene D., Westergaard, David, Rajpert-De Meyts, Ewa, Skakkebæk, Niels E., Juul, Anders, Brunak, Søren
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2017
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5390676/
https://ncbi.nlm.nih.gov/pubmed/28369266
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx014
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