000			02205 a2200673 4500
005			20250517130641.0
264		0	_c20170524
008			201705s 0 0 eng d
022			_a1537-6605
024	7		_a10.1016/j.ajhg.2016.11.010 _2doi
040			_aNLM _beng _cNLM
100	1		_aMattioli, Francesca
245	0	0	_aMutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis. _h[electronic resource]
260			_bAmerican journal of human genetics _cJan 2017
300			_a105-116 p. _bdigital
500			_aPublication Type: Journal Article
650	0	4	_aAcetylation
650	0	4	_aAdaptor Proteins, Signal Transducing _xgenetics
650	0	4	_aAdult
650	0	4	_aBlepharophimosis _xgenetics
650	0	4	_aBlepharoptosis _xgenetics
650	0	4	_aChild
650	0	4	_aChild, Preschool
650	0	4	_aChromosome Deletion
650	0	4	_aChromosomes, Human, Pair 3 _xgenetics
650	0	4	_aDNA-Binding Proteins
650	0	4	_aFemale
650	0	4	_aFrameshift Mutation
650	0	4	_aGenes, Dominant _xgenetics
650	0	4	_aHaploinsufficiency _xgenetics
650	0	4	_aHistone Acetyltransferases _xmetabolism
650	0	4	_aHumans
650	0	4	_aIntellectual Disability _xgenetics
650	0	4	_aMale
650	0	4	_aMethyltransferases _xdeficiency
650	0	4	_aMuscle Hypotonia _xgenetics
650	0	4	_aMutation
650	0	4	_aNuclear Proteins _xgenetics
650	0	4	_aPhenotype
650	0	4	_aSyndrome
700	1		_aSchaefer, Elise
700	1		_aMagee, Alex
700	1		_aMark, Paul
700	1		_aMancini, Grazia M
700	1		_aDieterich, Klaus
700	1		_aVon Allmen, Gretchen
700	1		_aAlders, Marielle
700	1		_aCoutton, Charles
700	1		_avan Slegtenhorst, Marjon
700	1		_aVieville, Gaëlle
700	1		_aEngelen, Mark
700	1		_aCobben, Jan Maarten
700	1		_aJuusola, Jane
700	1		_aPujol, Aurora
700	1		_aMandel, Jean-Louis
700	1		_aPiton, Amélie
773	0		_tAmerican journal of human genetics _gvol. 100 _gno. 1 _gp. 105-116
856	4	0	_uhttps://doi.org/10.1016/j.ajhg.2016.11.010 _zAvailable from publisher's website
999			_c26685181 _d26685181