000			02064 a2200637 4500
005			20250518062659.0
264		0	_c20200122
008			202001s 0 0 eng d
022			_a1546-1718
024	7		_a10.1038/s41588-019-0498-4 _2doi
040			_aNLM _beng _cNLM
100	1		_aVabres, Pierre
245	0	0	_aPostzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. _h[electronic resource]
260			_bNature genetics _c10 2019
300			_a1438-1441 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650	0	4	_aHumans
650	0	4	_aMosaicism
650	0	4	_aMutation
650	0	4	_aNeurocutaneous Syndromes _xetiology
650	0	4	_aSkin Pigmentation _xgenetics
650	0	4	_aZygote
650	0	4	_arhoA GTP-Binding Protein _xgenetics
700	1		_aSorlin, Arthur
700	1		_aKholmanskikh, Stanislav S
700	1		_aDemeer, Bénédicte
700	1		_aSt-Onge, Judith
700	1		_aDuffourd, Yannis
700	1		_aKuentz, Paul
700	1		_aCourcet, Jean-Benoît
700	1		_aCarmignac, Virginie
700	1		_aGarret, Philippine
700	1		_aBessis, Didier
700	1		_aBoute, Odile
700	1		_aBron, Alain
700	1		_aCaptier, Guillaume
700	1		_aCarmi, Esther
700	1		_aDevauchelle, Bernard
700	1		_aGeneviève, David
700	1		_aGondry-Jouet, Catherine
700	1		_aGuibaud, Laurent
700	1		_aLafon, Arnaud
700	1		_aMathieu-Dramard, Michèle
700	1		_aThevenon, Julien
700	1		_aDobyns, William B
700	1		_aBernard, Geneviève
700	1		_aPolubothu, Satyamaanasa
700	1		_aFaravelli, Francesca
700	1		_aKinsler, Veronica A
700	1		_aThauvin, Christel
700	1		_aFaivre, Laurence
700	1		_aRoss, M Elizabeth
700	1		_aRivière, Jean-Baptiste
773	0		_tNature genetics _gvol. 51 _gno. 10 _gp. 1438-1441
856	4	0	_uhttps://doi.org/10.1038/s41588-019-0498-4 _zAvailable from publisher's website
999			_c30160897 _d30160897