000			02130 a2200637 4500
005			20250517124619.0
264		0	_c20171024
008			201710s 0 0 eng d
022			_a1552-4833
024	7		_a10.1002/ajmg.a.38034 _2doi
040			_aNLM _beng _cNLM
100	1		_aDennert, Nicola
245	0	0	_aDe novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations. _h[electronic resource]
260			_bAmerican journal of medical genetics. Part A _cFeb 2017
300			_a435-443 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article; Review
650	0	4	_aBrain _xabnormalities
650	0	4	_aChild, Preschool
650	0	4	_aComparative Genomic Hybridization
650	0	4	_aExome
650	0	4	_aEye Abnormalities _xdiagnosis
650	0	4	_aFacies
650	0	4	_aFemale
650	0	4	_aGenetic Association Studies
650	0	4	_aHigh-Throughput Nucleotide Sequencing
650	0	4	_aHumans
650	0	4	_aInfant, Newborn
650	0	4	_aIntellectual Disability _xdiagnosis
650	0	4	_aMagnetic Resonance Imaging _xmethods
650	0	4	_aMale
650	0	4	_aPhenotype
650	0	4	_aPoint Mutation
650	0	4	_aPolymorphism, Single Nucleotide
650	0	4	_aRegistries
650	0	4	_aSOXB1 Transcription Factors _xgenetics
650	0	4	_aSequence Deletion
700	1		_aEngels, Hartmut
700	1		_aCremer, Kirsten
700	1		_aBecker, Jessica
700	1		_aWohlleber, Eva
700	1		_aAlbrecht, Beate
700	1		_aEhret, Julia K
700	1		_aLüdecke, Hermann-Josef
700	1		_aSuri, Mohnish
700	1		_aCarignani, Giulia
700	1		_aRenieri, Alessandra
700	1		_aKukuk, Guido M
700	1		_aWieland, Thomas
700	1		_aAndrieux, Joris
700	1		_aStrom, Tim M
700	1		_aWieczorek, Dagmar
700	1		_aDieux-Coëslier, Anne
700	1		_aZink, Alexander M
773	0		_tAmerican journal of medical genetics. Part A _gvol. 173 _gno. 2 _gp. 435-443
856	4	0	_uhttps://doi.org/10.1002/ajmg.a.38034 _zAvailable from publisher's website
999			_c26618500 _d26618500