Somatic Uniparental Isodisomy Explains Multifocality of Glomuvenous Malformations

Inherited vascular malformations are commonly autosomal dominantly inherited with high, but incomplete, penetrance; they often present as multiple lesions. We hypothesized that Knudson’s two-hit model could explain this multifocality and partial penetrance. We performed a systematic analysis of inhe...

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Hauptverfasser: Amyere, Mustapha, Aerts, Virginie, Brouillard, Pascal, McIntyre, Brendan A.S., Duhoux, François P., Wassef, Michel, Enjolras, Odile, Mulliken, John B., Devuyst, Olivier, Antoine-Poirel, Hélène, Boon, Laurence M., Vikkula, Miikka
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2013
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3567282/
https://ncbi.nlm.nih.gov/pubmed/23375657
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.12.017
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