000			01993 a2200601 4500
005			20250517035517.0
264		0	_c20160614
008			201606s 0 0 eng d
022			_a1552-4833
024	7		_a10.1002/ajmg.a.37189 _2doi
040			_aNLM _beng _cNLM
100	1		_aParker, Michael J
245	0	0	_aDe novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability. _h[electronic resource]
260			_bAmerican journal of medical genetics. Part A _cOct 2015
300			_a2231-7 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAdolescent
650	0	4	_aChild
650	0	4	_aChild, Preschool
650	0	4	_aConstipation _xdiagnosis
650	0	4	_aDNA Mutational Analysis
650	0	4	_aEpilepsies, Myoclonic _xdiagnosis
650	0	4	_aFemale
650	0	4	_aGait Disorders, Neurologic _xdiagnosis
650	0	4	_aGene Expression
650	0	4	_aHaploinsufficiency
650	0	4	_aHeterozygote
650	0	4	_aHip Dislocation _xdiagnosis
650	0	4	_aHumans
650	0	4	_aIntellectual Disability _xdiagnosis
650	0	4	_aMale
650	0	4	_aMuscle Hypotonia _xdiagnosis
650	0	4	_aMutation
650	0	4	_aPhenotype
650	0	4	_aStrabismus _xdiagnosis
650	0	4	_aTwins, Monozygotic
650	0	4	_aras GTPase-Activating Proteins _xgenetics
700	1		_aFryer, Alan E
700	1		_aShears, Deborah J
700	1		_aLachlan, Katherine L
700	1		_aMcKee, Shane A
700	1		_aMagee, Alex C
700	1		_aMohammed, Shehla
700	1		_aVasudevan, Pradeep C
700	1		_aPark, Soo-Mi
700	1		_aBenoit, Valérie
700	1		_aLederer, Damien
700	1		_aMaystadt, Isabelle
700	1		_aStudy, Ddd
700	1		_aFitzPatrick, David R
773	0		_tAmerican journal of medical genetics. Part A _gvol. 167A _gno. 10 _gp. 2231-7
856	4	0	_uhttps://doi.org/10.1002/ajmg.a.37189 _zAvailable from publisher's website
999			_c24987232 _d24987232