Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion in ACVRL1 Suggests the Causing Mechanism

Laura Boeri,Orietta Radi,Cecilia Canzonieri,Elisabetta Buscarini,Agnese Scatigno,Antonella Minelli,Federica Ornati,Fabio Pagella,Cesare Danesino,Carla Olivieri

Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion in ACVRL1 Suggests the Causing Mechanism

2013

Laura Boeri
Orietta Radi
Cecilia Canzonieri
Elisabetta Buscarini
Agnese Scatigno
Antonella Minelli
Federica Ornati
Fabio Pagella
Cesare Danesino
Carla Olivieri

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia. Mutations in either ENG or ACVRL1 account for around 85% of cases, and 10

Keywords:

ACVRL1
Genetics
Telangiectasia
Dysplasia
Dominance (genetics)
Biology
Medicine
Breakpoint
Multiplex ligation-dependent probe amplification

Correction
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