| 000 | 01473 a2200433 4500 | ||
|---|---|---|---|
| 005 | 20250514210124.0 | ||
| 264 | 0 | _c20051114 | |
| 008 | 200511s 0 0 eng d | ||
| 022 | _a0009-9163 | ||
| 024 | 7 |
_a10.1111/j.1399-0004.2004.00349.x _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aTischkowitz, M | |
| 245 | 0 | 0 |
_aAutosomal dominant B-cell immunodeficiency, distal limb anomalies and urogenital malformations (BILU syndrome) - report of a second family. _h[electronic resource] |
| 260 |
_bClinical genetics _cDec 2004 |
||
| 300 |
_a550-5 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aB-Lymphocytes _ximmunology |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFoot Deformities, Congenital _xdiagnostic imaging |
| 650 | 0 | 4 |
_aHomeodomain Proteins _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aImmunologic Deficiency Syndromes _xgenetics |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aLimb Deformities, Congenital _xdiagnostic imaging |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aRadiography |
| 650 | 0 | 4 | _aSyndrome |
| 650 | 0 | 4 |
_aUrogenital Abnormalities _xgenetics |
| 700 | 1 | _aGoodman, F | |
| 700 | 1 | _aKoliou, M | |
| 700 | 1 | _aWebster, D | |
| 700 | 1 | _aEdery, P | |
| 700 | 1 | _aJones, A | |
| 700 | 1 | _aWilson, L C | |
| 773 | 0 |
_tClinical genetics _gvol. 66 _gno. 6 _gp. 550-5 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/j.1399-0004.2004.00349.x _zAvailable from publisher's website |
| 999 |
_c15209990 _d15209990 |
||