000 01601 a2200445 4500
005 20250516135600.0
264 0 _c20130909
008 201309s 0 0 eng d
022 _a1552-4833
024 7 _a10.1002/ajmg.a.35751
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aBurrage, Lindsay C
245 0 0 _aA mosaic 2q24.2 deletion narrows the critical region to a 0.4 Mb interval that includes TBR1, TANK, and PSMD14.
_h[electronic resource]
260 _bAmerican journal of medical genetics. Part A
_cApr 2013
300 _a841-4 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article
650 0 4 _aAdaptor Proteins, Signal Transducing
_xgenetics
650 0 4 _aAdolescent
650 0 4 _aChromosome Deletion
650 0 4 _aChromosomes, Human, Pair 2
650 0 4 _aComparative Genomic Hybridization
650 0 4 _aDwarfism
_xgenetics
650 0 4 _aGenetic Association Studies
650 0 4 _aHumans
650 0 4 _aIn Situ Hybridization, Fluorescence
650 0 4 _aIntellectual Disability
_xgenetics
650 0 4 _aMale
650 0 4 _aMosaicism
650 0 4 _aPhenotype
650 0 4 _aProteasome Endopeptidase Complex
_xgenetics
650 0 4 _aT-Box Domain Proteins
_xgenetics
650 0 4 _aTrans-Activators
_xgenetics
700 1 _aEble, Tanya N
700 1 _aHixson, Patricia M
700 1 _aRoney, Erin K
700 1 _aCheung, Sau W
700 1 _aFranco, Luis M
773 0 _tAmerican journal of medical genetics. Part A
_gvol. 161A
_gno. 4
_gp. 841-4
856 4 0 _uhttps://doi.org/10.1002/ajmg.a.35751
_zAvailable from publisher's website
999 _c22537737
_d22537737