| 000 | 01491 a2200421 4500 | ||
|---|---|---|---|
| 005 | 20250516213220.0 | ||
| 264 | 0 | _c20150818 | |
| 008 | 201508s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.36450 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aTunovic, Sanjin | |
| 245 | 0 | 0 |
_aDe novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cJul 2014 |
||
| 300 |
_a1744-9 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xdiagnosis |
| 650 | 0 | 4 |
_aBone Diseases, Developmental _xdiagnosis |
| 650 | 0 | 4 |
_aBrain _xpathology |
| 650 | 0 | 4 |
_aFace _xabnormalities |
| 650 | 0 | 4 | _aFacies |
| 650 | 0 | 4 |
_aHematologic Diseases _xdiagnosis |
| 650 | 0 | 4 |
_aHistone Demethylases _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aIntellectual Disability _xdiagnosis |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aRepressor Proteins _xgenetics |
| 650 | 0 | 4 |
_aTooth Abnormalities _xdiagnosis |
| 650 | 0 | 4 |
_aVestibular Diseases _xdiagnosis |
| 700 | 1 | _aBarkovich, James | |
| 700 | 1 | _aSherr, Elliott H | |
| 700 | 1 | _aSlavotinek, Anne M | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 164A _gno. 7 _gp. 1744-9 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.36450 _zAvailable from publisher's website |
| 999 |
_c23835556 _d23835556 |
||