000			01975 a2200541 4500
005			20250516100037.0
264		0	_c20130304
008			201303s 0 0 eng d
022			_a1098-1004
024	7		_a10.1002/humu.22141 _2doi
040			_aNLM _beng _cNLM
100	1		_aCampeau, Philippe M
245	0	0	_aThe KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. _h[electronic resource]
260			_bHuman mutation _cNov 2012
300			_a1520-5 p. _bdigital
500			_aPublication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review
650	0	4	_aAbnormalities, Multiple _xenzymology
650	0	4	_aBase Sequence
650	0	4	_aBlepharophimosis _xenzymology
650	0	4	_aBlepharoptosis _xenzymology
650	0	4	_aCraniofacial Abnormalities _xenzymology
650	0	4	_aDNA _xgenetics
650	0	4	_aDatabases, Nucleic Acid
650	0	4	_aFemale
650	0	4	_aGenetic Association Studies
650	0	4	_aHaploinsufficiency
650	0	4	_aHeart Defects, Congenital _xenzymology
650	0	4	_aHistone Acetyltransferases _xchemistry
650	0	4	_aHumans
650	0	4	_aIntellectual Disability _xenzymology
650	0	4	_aKidney _xabnormalities
650	0	4	_aMale
650	0	4	_aMolecular Sequence Data
650	0	4	_aMutation
650	0	4	_aPatella _xabnormalities
650	0	4	_aPsychomotor Disorders _xenzymology
650	0	4	_aScrotum _xabnormalities
650	0	4	_aSequence Deletion
650	0	4	_aUrogenital Abnormalities _xenzymology
700	1		_aLu, James T
700	1		_aDawson, Brian C
700	1		_aFokkema, Ivo F A C
700	1		_aRobertson, Stephen P
700	1		_aGibbs, Richard A
700	1		_aLee, Brendan H
773	0		_tHuman mutation _gvol. 33 _gno. 11 _gp. 1520-5
856	4	0	_uhttps://doi.org/10.1002/humu.22141 _zAvailable from publisher's website
999			_c21879605 _d21879605