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 |