000 01620 a2200445 4500
005 20250516173820.0
264 0 _c20140702
008 201407s 0 0 eng d
022 _a1552-4833
024 7 _a10.1002/ajmg.a.36176
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aBlassnig-Ezeh, Anya
245 0 0 _aSevere growth retardation, delayed bone age, and facial dysmorphism in two patients with microduplications in 2p16 → p22.
_h[electronic resource]
260 _bAmerican journal of medical genetics. Part A
_cDec 2013
300 _a3176-81 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article
650 0 4 _aBasic Helix-Loop-Helix Transcription Factors
_xgenetics
650 0 4 _aChild
650 0 4 _aChromosome Duplication
_xgenetics
650 0 4 _aChromosomes, Human, Pair 2
_xgenetics
650 0 4 _aComparative Genomic Hybridization
650 0 4 _aDevelopmental Disabilities
_xgenetics
650 0 4 _aFemale
650 0 4 _aHumans
650 0 4 _aIntellectual Disability
_xgenetics
650 0 4 _aMale
650 0 4 _arho GTP-Binding Proteins
_xgenetics
700 1 _aBandelier, Claude
700 1 _aFrühmesser, Anne
700 1 _aRevencu, Nicole
700 1 _aKrabichler, Birgit
700 1 _aBeauloye, Véronique
700 1 _aRavoet, Marie
700 1 _aFauth, Christine
700 1 _aZschocke, Johannes
700 1 _aSimma, Burkhard
700 1 _aKotzot, Dieter
773 0 _tAmerican journal of medical genetics. Part A
_gvol. 161A
_gno. 12
_gp. 3176-81
856 4 0 _uhttps://doi.org/10.1002/ajmg.a.36176
_zAvailable from publisher's website
999 _c23161486
_d23161486