000 | 01637 a2200481 4500 | ||
---|---|---|---|
005 | 20250516020358.0 | ||
264 | 0 | _c20110517 | |
008 | 201105s 0 0 eng d | ||
022 | _a1552-4833 | ||
024 | 7 |
_a10.1002/ajmg.a.33809 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aThevenon, Julien | |
245 | 0 | 0 |
_aDe Novo 21q22.1q22.2 deletion including RUNX1 mimicking a congenital infection. _h[electronic resource] |
260 |
_bAmerican journal of medical genetics. Part A _cJan 2011 |
||
300 |
_a126-9 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Comment; Letter | ||
650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
650 | 0 | 4 | _aChild |
650 | 0 | 4 | _aChromosome Deletion |
650 | 0 | 4 |
_aChromosomes, Human, Pair 21 _xgenetics |
650 | 0 | 4 |
_aCore Binding Factor Alpha 2 Subunit _xgenetics |
650 | 0 | 4 | _aDiagnosis, Differential |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aPhenotype |
650 | 0 | 4 | _aSyndrome |
650 | 0 | 4 |
_aThrombocytopenia _xgenetics |
700 | 1 | _aCallier, Patrick | |
700 | 1 | _aThauvin-Robinet, Christel | |
700 | 1 | _aMejean, Nathalie | |
700 | 1 | _aFalcon-Eicher, Sylvie | |
700 | 1 | _aMaynadie, Marc | |
700 | 1 | _ade Maistre, Emmanuel | |
700 | 1 | _aBidot, Samuel | |
700 | 1 | _aHuet, Frédéric | |
700 | 1 | _aBeri-Dexheimer, Mylène | |
700 | 1 | _aJonveaux, Philippe | |
700 | 1 | _aMugneret, Francine | |
700 | 1 | _aFaivre, Laurence | |
773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 155A _gno. 1 _gp. 126-9 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.33809 _zAvailable from publisher's website |
999 |
_c20490186 _d20490186 |