000 01658 a2200457 4500
005 20250516185716.0
264 0 _c20141103
008 201411s 0 0 eng d
022 _a1552-4833
024 7 _a10.1002/ajmg.a.36345
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aKamien, Benjamin
245 0 0 _aCharacterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy.
_h[electronic resource]
260 _bAmerican journal of medical genetics. Part A
_cMar 2014
300 _a782-8 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aChild Behavior Disorders
_xdiagnosis
650 0 4 _aChild Development Disorders, Pervasive
_xdiagnosis
650 0 4 _aChild, Preschool
650 0 4 _aChromosome Deletion
650 0 4 _aChromosomes, Human, Pair 15
650 0 4 _aComparative Genomic Hybridization
650 0 4 _aEpilepsy
_xdiagnosis
650 0 4 _aFacies
650 0 4 _aHaplotypes
650 0 4 _aHumans
650 0 4 _aLinkage Disequilibrium
650 0 4 _aMale
650 0 4 _aPedigree
650 0 4 _aPhenotype
650 0 4 _aPolymorphism, Single Nucleotide
650 0 4 _aSialyltransferases
_xgenetics
700 1 _aHarraway, James
700 1 _aLundie, Ben
700 1 _aSmallhorne, Lex
700 1 _aGibbs, Vicki
700 1 _aHeath, Anna
700 1 _aFullerton, Janice M
773 0 _tAmerican journal of medical genetics. Part A
_gvol. 164A
_gno. 3
_gp. 782-8
856 4 0 _uhttps://doi.org/10.1002/ajmg.a.36345
_zAvailable from publisher's website
999 _c23385430
_d23385430