| 000 | 01868 a2200541 4500 | ||
|---|---|---|---|
| 005 | 20250516203641.0 | ||
| 264 | 0 | _c20150819 | |
| 008 | 201508s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.36439 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBartholdi, Deborah | |
| 245 | 0 | 0 |
_aA newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cMay 2014 |
||
| 300 |
_a1277-83 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 |
_aAdenosine Triphosphatases _xgenetics |
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aChromosome Deletion |
| 650 | 0 | 4 | _aChromosomes, Human, Pair 13 |
| 650 | 0 | 4 | _aComparative Genomic Hybridization |
| 650 | 0 | 4 | _aDermatitis, Atopic |
| 650 | 0 | 4 | _aEczema |
| 650 | 0 | 4 | _aFacies |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aHMGB1 Protein _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aIntellectual Disability |
| 650 | 0 | 4 | _aKaryotyping |
| 650 | 0 | 4 | _aKatanin |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMicrocephaly |
| 650 | 0 | 4 | _aPhenotype |
| 700 | 1 | _aStray-Pedersen, Asbjørg | |
| 700 | 1 | _aAzzarello-Burri, Silvia | |
| 700 | 1 | _aKibaek, Maria | |
| 700 | 1 | _aKirchhoff, Maria | |
| 700 | 1 | _aOneda, Beatrice | |
| 700 | 1 | _aRødningen, Olaug | |
| 700 | 1 | _aSchmitt-Mechelke, Thomas | |
| 700 | 1 | _aRauch, Anita | |
| 700 | 1 | _aKjaergaard, Susanne | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 164A _gno. 5 _gp. 1277-83 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.36439 _zAvailable from publisher's website |
| 999 |
_c23672793 _d23672793 |
||