000			02406 a2200769 4500
005			20250514224342.0
264		0	_c20050708
008			200507s 0 0 eng d
022			_a0002-9297
024	7		_a10.1086/430721 _2doi
040			_aNLM _beng _cNLM
100	1		_aRagge, Nicola K
245	0	0	_aHeterozygous mutations of OTX2 cause severe ocular malformations. _h[electronic resource]
260			_bAmerican journal of human genetics _cJun 2005
300			_a1008-22 p. _bdigital
500			_aPublication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAmino Acid Motifs
650	0	4	_aAmino Acid Sequence
650	0	4	_aAnimals
650	0	4	_aAnophthalmos _xgenetics
650	0	4	_aBrain _xdiagnostic imaging
650	0	4	_aChromosome Mapping
650	0	4	_aDNA Mutational Analysis
650	0	4	_aEye Abnormalities _xgenetics
650	0	4	_aFemale
650	0	4	_aGene Expression Regulation, Developmental
650	0	4	_aGenes, Homeobox
650	0	4	_aGenetic Variation
650	0	4	_aHeterozygote
650	0	4	_aHomeodomain Proteins _xchemistry
650	0	4	_aHumans
650	0	4	_aMagnetic Resonance Imaging
650	0	4	_aMale
650	0	4	_aMice
650	0	4	_aModels, Genetic
650	0	4	_aMosaicism
650	0	4	_aMutation
650	0	4	_aOpen Reading Frames
650	0	4	_aOtx Transcription Factors
650	0	4	_aPedigree
650	0	4	_aPenetrance
650	0	4	_aProtein Structure, Tertiary
650	0	4	_aRadiography
650	0	4	_aSequence Analysis, DNA
700	1		_aBrown, Alison G
700	1		_aPoloschek, Charlotte M
700	1		_aLorenz, Birgit
700	1		_aHenderson, R Alex
700	1		_aClarke, Michael P
700	1		_aRussell-Eggitt, Isabelle
700	1		_aFielder, Alistair
700	1		_aGerrelli, Dianne
700	1		_aMartinez-Barbera, Juan Pedro
700	1		_aRuddle, Piers
700	1		_aHurst, Jane
700	1		_aCollin, J Richard O
700	1		_aSalt, Alison
700	1		_aCooper, Simon T
700	1		_aThompson, Pamela J
700	1		_aSisodiya, Sanjay M
700	1		_aWilliamson, Kathleen A
700	1		_aFitzpatrick, David R
700	1		_avan Heyningen, Veronica
700	1		_aHanson, Isabel M
773	0		_tAmerican journal of human genetics _gvol. 76 _gno. 6 _gp. 1008-22
856	4	0	_uhttps://doi.org/10.1086/430721 _zAvailable from publisher's website
999			_c15514131 _d15514131