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

Abstract 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, comin...

Full description

Bibliographic Details

Published in:	Molecular Genetics & Genomic Medicine
Main Authors:	Anna Sbalchiero, Yasmin Abu Hweij, Tommaso Mazza, Elisabetta Buscarini, Claudia Scotti, Fabio Pagella, Guido Manfredi, Elina Matti, Giuseppe Spinozzi, Carla Olivieri
Format:	Article
Language:	English
Published:	Wiley 2022-08-01
Subjects:	ACVRL1 age estimation common ancestor founder effect HHT Rendu‐Osler‐weber syndrome
Online Access:	https://doi.org/10.1002/mgg3.1972