000 01536 a2200421 4500
005 20250516141209.0
264 0 _c20130909
008 201309s 0 0 eng d
022 _a1552-4833
024 7 _a10.1002/ajmg.a.35783
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aHancarova, Miroslava
245 0 0 _aA patient with de novo 0.45 Mb deletion of 2p16.1: the role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome.
_h[electronic resource]
260 _bAmerican journal of medical genetics. Part A
_cApr 2013
300 _a865-70 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 _aCarrier Proteins
_xgenetics
650 0 4 _aChild
650 0 4 _aChromosome Deletion
650 0 4 _aChromosomes, Human, Pair 2
650 0 4 _aFacies
650 0 4 _aFemale
650 0 4 _aGenetic Association Studies
650 0 4 _aHumans
650 0 4 _aNuclear Proteins
_xgenetics
650 0 4 _aPolymorphism, Single Nucleotide
650 0 4 _aProto-Oncogene Proteins c-rel
_xgenetics
650 0 4 _aRepressor Proteins
650 0 4 _aSyndrome
700 1 _aSimandlova, Martina
700 1 _aDrabova, Jana
700 1 _aMannik, Katrin
700 1 _aKurg, Ants
700 1 _aSedlacek, Zdenek
773 0 _tAmerican journal of medical genetics. Part A
_gvol. 161A
_gno. 4
_gp. 865-70
856 4 0 _uhttps://doi.org/10.1002/ajmg.a.35783
_zAvailable from publisher's website
999 _c22584214
_d22584214