Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?
Genetics in medicine : official journal of the American College of Medical Genetics 2019 Feb .
Wooderchak-Donahue Whitney L, Akay Gulsen, Whitehead Kevin, Briggs Eric, Stevenson David A, O'Fallon Brendan, Velinder Matthew, Farrell Andrew, Shen Wei, Bedoukian Emma, Skrabann Cara M, Antaya Richard J, Henderson Kate, Pollak Jeffrey, Treat James, Day Ronald, Jacher Joseph E, Hannibal Mark, Bontempo Kelly, Marth Gabor, Bayrak-Toydemir Pinar, McDonald Jam
Association of common candidate variants with vascular malformations and intracranial hemorrhage in hereditary hemorrhagic telangiectasia.
Molecular genetics & genomic medicine 2018 May 6 (3): 350-356.
Pawlikowska Ludmila, Nelson Jeffrey, Guo Diana E, McCulloch Charles E, Lawton Michael T, Kim Helen, Faughnan Marie E,