Copy number variations in endoglin locus: mapping of large deletions in Spanish families with hereditary hemorrhagic telangiectasia type 1

BACKGROUND: The hereditary hemorrhagic telangiectasia syndrome (HHT), also known as the Rendu–Osler-Weber syndrome is a multiorganic vascular disorder inherited as an autosomal dominant trait. Diagnostic clinical criteria include: epistaxis, telangiectases in mucocutaneous and gastrointestinal sites...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Fontalba, Ana, Fernández-Luna, Jose L, Zarrabeitia, Roberto, Recio-Poveda, Lucia, Albiñana, Virginia, Ojeda-Fernández, Maria L, Bernabéu, Carmelo, Alcaraz, Luis A, Botella, Luisa M
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2013
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4222255/
https://ncbi.nlm.nih.gov/pubmed/24267784
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-14-121
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