Hereditary hemorrhagic telangiectasia: First demonstration of a founder effect in Italy; the ACVRL1 c.289_294del variant originated in the country of Bergamo 200 years ago

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder, affecting 1:5000 individuals worldwide. All the genes associated to the disease (ENG, ACVRL1, SMAD4, GDF2) belong to the TGF‐β/BMPs signaling pathway. We found 19 HHT unrelated families, coming from a...

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Detalles Bibliográficos
Autores principales: Sbalchiero, Anna, Abu Hweij, Yasmin, Mazza, Tommaso, Buscarini, Elisabetta, Scotti, Claudia, Pagella, Fabio, Manfredi, Guido, Matti, Elina, Spinozzi, Giuseppe, Olivieri, Carla
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9356557/
https://www.ncbi.nlm.nih.gov/pubmed/35620871
http://dx.doi.org/10.1002/mgg3.1972

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