000			02130 a2200625 4500
005			20250518023250.0
264		0	_c20200204
008			202002s 0 0 eng d
022			_a1530-0366
024	7		_a10.1038/s41436-019-0443-z _2doi
040			_aNLM _beng _cNLM
100	1		_aWooderchak-Donahue, Whitney L
245	0	0	_aPhenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)? _h[electronic resource]
260			_bGenetics in medicine : official journal of the American College of Medical Genetics _c09 2019
300			_a2007-2014 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aActivin Receptors, Type II _xgenetics
650	0	4	_aAdolescent
650	0	4	_aCapillaries _xabnormalities
650	0	4	_aChild
650	0	4	_aEndoglin _xgenetics
650	0	4	_aFemale
650	0	4	_aGenetic Testing
650	0	4	_aHumans
650	0	4	_aMale
650	0	4	_aMutation
650	0	4	_aReceptor, EphB4 _xgenetics
650	0	4	_aSmad4 Protein _xgenetics
650	0	4	_aTelangiectasia, Hereditary Hemorrhagic _xdiagnosis
650	0	4	_aVascular Malformations _xgenetics
650	0	4	_aExome Sequencing
700	1		_aAkay, Gulsen
700	1		_aWhitehead, Kevin
700	1		_aBriggs, Eric
700	1		_aStevenson, David A
700	1		_aO'Fallon, Brendan
700	1		_aVelinder, Matthew
700	1		_aFarrell, Andrew
700	1		_aShen, Wei
700	1		_aBedoukian, Emma
700	1		_aSkrabann, Cara M
700	1		_aAntaya, Richard J
700	1		_aHenderson, Kate
700	1		_aPollak, Jeffrey
700	1		_aTreat, James
700	1		_aDay, Ronald
700	1		_aJacher, Joseph E
700	1		_aHannibal, Mark
700	1		_aBontempo, Kelly
700	1		_aMarth, Gabor
700	1		_aBayrak-Toydemir, Pinar
700	1		_aMcDonald, Jamie
773	0		_tGenetics in medicine : official journal of the American College of Medical Genetics _gvol. 21 _gno. 9 _gp. 2007-2014
856	4	0	_uhttps://doi.org/10.1038/s41436-019-0443-z _zAvailable from publisher's website
999			_c29369418 _d29369418