| 000 | 01764 a2200493 4500 | ||
|---|---|---|---|
| 005 | 20250517071545.0 | ||
| 264 | 0 | _c20161104 | |
| 008 | 201611s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.37499 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aFrans, Glynis | |
| 245 | 0 | 0 |
_aMild humoral immunodeficiency in a patient with X-linked Kabuki syndrome. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cMar 2016 |
||
| 300 |
_a801-3 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 | _aAlleles |
| 650 | 0 | 4 |
_aComplement System Proteins _ximmunology |
| 650 | 0 | 4 |
_aFace _xabnormalities |
| 650 | 0 | 4 | _aGene Frequency |
| 650 | 0 | 4 |
_aGenetic Diseases, X-Linked _xdiagnosis |
| 650 | 0 | 4 |
_aHematologic Diseases _xdiagnosis |
| 650 | 0 | 4 | _aHemizygote |
| 650 | 0 | 4 |
_aHistone Demethylases _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aImmunity, Humoral |
| 650 | 0 | 4 |
_aImmunoglobulin Isotypes _xblood |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aLymphocyte Activation _ximmunology |
| 650 | 0 | 4 |
_aLymphocyte Subsets _ximmunology |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aNuclear Proteins _xgenetics |
| 650 | 0 | 4 |
_aTransmembrane Activator and CAML Interactor Protein _xgenetics |
| 650 | 0 | 4 |
_aVestibular Diseases _xdiagnosis |
| 700 | 1 | _aMeyts, Isabelle | |
| 700 | 1 | _aDevriendt, Koen | |
| 700 | 1 | _aListon, Adrian | |
| 700 | 1 | _aVermeulen, François | |
| 700 | 1 | _aBossuyt, Xavier | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 170 _gno. 3 _gp. 801-3 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.37499 _zAvailable from publisher's website |
| 999 |
_c25573397 _d25573397 |
||