Associated Papers
Pulmonary vascular phenotype identified in patients with GDF2 (BMP9) or BMP10 variants: an international multicentre study.
Grynblat J et al.
The European Respiratory Journal, 2024
Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG.
Villa D et al.
Bmc Neurology, 2020
Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.
Spinelli L et al.
Journal of Medical Genetics, 2015
25527629 (PubMed )
Supplement: jmedgenet-2014-102803-s1.pdf
Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia.
Alaa El Din F et al.
Plos One, 2015
Update on molecular diagnosis of hereditary hemorrhagic telangiectasia.
Richards-Yutz J et al.
Human Genetics, 2010
Select a paper to view details