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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2013
Assuntos:
Article
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados