000			02128 a2200649 4500
005			20250516215639.0
264		0	_c20160106
008			201601s 0 0 eng d
022			_a1476-5438
024	7		_a10.1038/ejhg.2014.109 _2doi
040			_aNLM _beng _cNLM
100	1		_aKolanczyk, Mateusz
245	0	0	_aMissense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. _h[electronic resource]
260			_bEuropean journal of human genetics : EJHG _cMay 2015
300			_a633-8 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article
650	0	4	_aAbnormalities, Multiple _xdiagnosis
650	0	4	_aAdolescent
650	0	4	_aAmino Acid Sequence
650	0	4	_aCell Line
650	0	4	_aChild
650	0	4	_aComparative Genomic Hybridization
650	0	4	_aCraniofacial Abnormalities _xdiagnosis
650	0	4	_aDandy-Walker Syndrome _xdiagnosis
650	0	4	_aExome
650	0	4	_aGene Expression
650	0	4	_aGenes, X-Linked
650	0	4	_aGenetic Association Studies
650	0	4	_aHeart Septal Defects, Atrial _xdiagnosis
650	0	4	_aHigh-Throughput Nucleotide Sequencing
650	0	4	_aHumans
650	0	4	_aIntellectual Disability _xdiagnosis
650	0	4	_aMale
650	0	4	_aMolecular Sequence Data
650	0	4	_aMutation, Missense
650	0	4	_aPedigree
650	0	4	_aPhenotype
650	0	4	_aProteins _xchemistry
650	0	4	_aSequence Alignment
700	1		_aKrawitz, Peter
700	1		_aHecht, Jochen
700	1		_aHupalowska, Anna
700	1		_aMiaczynska, Marta
700	1		_aMarschner, Katrin
700	1		_aSchlack, Claire
700	1		_aEmmerich, Denise
700	1		_aKobus, Karolina
700	1		_aKornak, Uwe
700	1		_aRobinson, Peter N
700	1		_aPlecko, Barbara
700	1		_aGrangl, Gernot
700	1		_aUhrig, Sabine
700	1		_aMundlos, Stefan
700	1		_aHorn, Denise
773	0		_tEuropean journal of human genetics : EJHG _gvol. 23 _gno. 5 _gp. 633-8
856	4	0	_uhttps://doi.org/10.1038/ejhg.2014.109 _zAvailable from publisher's website
999			_c23906847 _d23906847