000			02059 a2200673 4500
005			20250516091101.0
264		0	_c20120803
008			201208s 0 0 eng d
022			_a1546-1718
024	7		_a10.1038/ng.2262 _2doi
040			_aNLM _beng _cNLM
100	1		_aKoolen, David A
245	0	0	_aMutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. _h[electronic resource]
260			_bNature genetics _cApr 2012
300			_a639-41 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAbnormalities, Multiple _xgenetics
650	0	4	_aAged
650	0	4	_aAging
650	0	4	_aChromosome Deletion
650	0	4	_aChromosomes, Human, Pair 17
650	0	4	_aFacies
650	0	4	_aFemale
650	0	4	_aHaploinsufficiency
650	0	4	_aHumans
650	0	4	_aIntellectual Disability _xgenetics
650	0	4	_aMale
650	0	4	_aMiddle Aged
650	0	4	_aMutation
650	0	4	_aNuclear Proteins _xgenetics
650	0	4	_aSmith-Magenis Syndrome
650	0	4	_aSyndrome
700	1		_aKramer, Jamie M
700	1		_aNeveling, Kornelia
700	1		_aNillesen, Willy M
700	1		_aMoore-Barton, Heather L
700	1		_aElmslie, Frances V
700	1		_aToutain, Annick
700	1		_aAmiel, Jeanne
700	1		_aMalan, Valérie
700	1		_aTsai, Anne Chun-Hui
700	1		_aCheung, Sau Wai
700	1		_aGilissen, Christian
700	1		_aVerwiel, Eugene T P
700	1		_aMartens, Sarah
700	1		_aFeuth, Ton
700	1		_aBongers, Ernie M H F
700	1		_ade Vries, Petra
700	1		_aScheffer, Hans
700	1		_aVissers, Lisenka E L M
700	1		_ade Brouwer, Arjan P M
700	1		_aBrunner, Han G
700	1		_aVeltman, Joris A
700	1		_aSchenck, Annette
700	1		_aYntema, Helger G
700	1		_ade Vries, Bert B A
773	0		_tNature genetics _gvol. 44 _gno. 6 _gp. 639-41
856	4	0	_uhttps://doi.org/10.1038/ng.2262 _zAvailable from publisher's website
999			_c21741780 _d21741780