000 01919 a2200541 4500
005 20250517051532.0
264 0 _c20161017
008 201610s 0 0 eng d
022 _a1552-4833
024 7 _a10.1002/ajmg.a.37350
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aSchneider, Anouck
245 0 0 _aIdentification of disrupted AUTS2 and EPHA6 genes by array painting in a patient carrying a de novo balanced translocation t(3;7) with intellectual disability and neurodevelopment disorder.
_h[electronic resource]
260 _bAmerican journal of medical genetics. Part A
_cDec 2015
300 _a3031-7 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aBase Sequence
650 0 4 _aChild
650 0 4 _aChromosome Painting
_xmethods
650 0 4 _aChromosomes, Human, Pair 3
650 0 4 _aChromosomes, Human, Pair 7
650 0 4 _aCytoskeletal Proteins
650 0 4 _aFemale
650 0 4 _aHumans
650 0 4 _aIntellectual Disability
_xgenetics
650 0 4 _aMale
650 0 4 _aMolecular Sequence Data
650 0 4 _aNeurodevelopmental Disorders
_xgenetics
650 0 4 _aPregnancy
650 0 4 _aProteins
_xgenetics
650 0 4 _aReceptor, EphA6
_xgenetics
650 0 4 _aTranscription Factors
650 0 4 _aTranslocation, Genetic
700 1 _aPuechberty, Jacques
700 1 _aNg, Bee Ling
700 1 _aCoubes, Christine
700 1 _aGatinois, Vincent
700 1 _aTournaire, Magali
700 1 _aGirard, Manon
700 1 _aDumont, Bruno
700 1 _aBouret, Pauline
700 1 _aMagnetto, Julia
700 1 _aBaghdadli, Amaria
700 1 _aPellestor, Franck
700 1 _aGeneviève, David
773 0 _tAmerican journal of medical genetics. Part A
_gvol. 167A
_gno. 12
_gp. 3031-7
856 4 0 _uhttps://doi.org/10.1002/ajmg.a.37350
_zAvailable from publisher's website
999 _c25226067
_d25226067