000 01603 a2200469 4500
005 20250516142021.0
264 0 _c20130909
008 201309s 0 0 eng d
022 _a1552-4833
024 7 _a10.1002/ajmg.a.35778
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aGazou, Anastasia
245 0 0 _aXq22.3-q23 deletion including ACSL4 in a patient with intellectual disability.
_h[electronic resource]
260 _bAmerican journal of medical genetics. Part A
_cApr 2013
300 _a860-4 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAbnormalities, Multiple
_xdiagnosis
650 0 4 _aChild
650 0 4 _aChromosome Deletion
650 0 4 _aChromosomes, Human, X
650 0 4 _aCoenzyme A Ligases
_xgenetics
650 0 4 _aFacies
650 0 4 _aGene Deletion
650 0 4 _aGenome-Wide Association Study
650 0 4 _aGenotype
650 0 4 _aHumans
650 0 4 _aIn Situ Hybridization, Fluorescence
650 0 4 _aIntellectual Disability
_xgenetics
650 0 4 _aMale
650 0 4 _aPhenotype
650 0 4 _aPolymorphism, Single Nucleotide
650 0 4 _aLong-Chain-Fatty-Acid-CoA Ligase
700 1 _aRiess, Angelika
700 1 _aGrasshoff, Ute
700 1 _aSchäferhoff, Karin
700 1 _aBonin, Michael
700 1 _aJauch, Anna
700 1 _aRiess, Olaf
700 1 _aTzschach, Andreas
773 0 _tAmerican journal of medical genetics. Part A
_gvol. 161A
_gno. 4
_gp. 860-4
856 4 0 _uhttps://doi.org/10.1002/ajmg.a.35778
_zAvailable from publisher's website
999 _c22606153
_d22606153