Genetics and Syndromes Associated with Vascular Malformations

Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1

Kimberly A. McAllister, K.M. Grogg, David W. Johnson et al. · Nature Genetics · 1994 · 1.5K citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Mutations in the activin receptor–like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2

David W. Johnson, Jonathan Berg, Melanie A. Baldwin et al. · Nature Genetics · 1996 · 1.1K citations

Life Sciences, Genetics, Molecular Genetics +8

Vascular Dysmorphogenesis Caused by an Activating Mutation in the Receptor Tyrosine Kinase TIE2

Miikka Vikkula, Laurence M. Boon, Kermit L. Carraway et al. · Cell · 1996 · 809 citations · Full text

Medicine, Molecular Biology, Molecular Genetics +16

Capillary Malformation–Arteriovenous Malformation, a New Clinical and Genetic Disorder Caused by RASA1 Mutations

Iiro Eerola, Laurence M. Boon, John B. Mulliken et al. · The American Journal of Human Genetics · 2003 · 750 citations · Full text

Medicine, Genetics, Molecular Medicine +14

Lethal genes surviving by mosaicism: A possible explanation for sporadic birth defects involving the skin

Rudolf Happle · Journal of the American Academy of Dermatology · 1987 · 556 citations

Life Sciences, Genetics, Molecular Genetics +16