000 02172 a2200649 4500
005 20250516065405.0
264 0 _c20120613
008 201206s 0 0 eng d
022 _a1476-5438
024 7 _a10.1038/ejhg.2011.217
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aDelphin, Nathalie
245 0 0 _aIntellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?
_h[electronic resource]
260 _bEuropean journal of human genetics : EJHG
_cMar 2012
300 _a352-6 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAdolescent
650 0 4 _aAdult
650 0 4 _aChild
650 0 4 _aChild, Preschool
650 0 4 _aChromosome Deletion
650 0 4 _aChromosomes, Human, X
650 0 4 _aComparative Genomic Hybridization
650 0 4 _aEye Proteins
_xgenetics
650 0 4 _aGTP-Binding Proteins
650 0 4 _aGene Deletion
650 0 4 _aGenetic Diseases, X-Linked
_xcomplications
650 0 4 _aGenetic Linkage
650 0 4 _aHaplotypes
650 0 4 _aHumans
650 0 4 _aInfant
650 0 4 _aIntellectual Disability
_xcomplications
650 0 4 _aIntracellular Signaling Peptides and Proteins
_xgenetics
650 0 4 _aKruppel-Like Transcription Factors
_xgenetics
650 0 4 _aMale
650 0 4 _aMembrane Proteins
_xgenetics
650 0 4 _aMiddle Aged
650 0 4 _aPedigree
650 0 4 _aRetinal Dystrophies
_xcomplications
650 0 4 _aSyndrome
650 0 4 _aYoung Adult
700 1 _aHanein, Sylvain
700 1 _aTaie, Lucas Fares
700 1 _aZanlonghi, Xavier
700 1 _aBonneau, Dominique
700 1 _aMoisan, Jean-Paul
700 1 _aBoyle, Christine
700 1 _aNitschke, Patrick
700 1 _aPruvost, Solenn
700 1 _aBonnefont, Jean-Paul
700 1 _aMunnich, Arnold
700 1 _aRoche, Olivier
700 1 _aKaplan, Josseline
700 1 _aRozet, Jean-Michel
773 0 _tEuropean journal of human genetics : EJHG
_gvol. 20
_gno. 3
_gp. 352-6
856 4 0 _uhttps://doi.org/10.1038/ejhg.2011.217
_zAvailable from publisher's website
999 _c21352584
_d21352584