| 000 | 01745 a2200493 4500 | ||
|---|---|---|---|
| 005 | 20250517031040.0 | ||
| 264 | 0 | _c20150909 | |
| 008 | 201509s 0 0 eng d | ||
| 022 | _a1471-2350 | ||
| 024 | 7 |
_a10.1186/s12881-015-0175-0 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aFrosk, Patrick | |
| 245 | 0 | 0 |
_aA novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature. _h[electronic resource] |
| 260 |
_bBMC medical genetics _cApr 2015 |
||
| 300 |
_a28 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review | ||
| 650 | 0 | 4 |
_aCalcium-Binding Proteins _xgenetics |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 |
_aCraniofacial Abnormalities _xgenetics |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGenital Diseases, Male _xgenetics |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHypoalbuminemia _xgenetics |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aLymphangiectasis, Intestinal _xgenetics |
| 650 | 0 | 4 |
_aLymphatic System _xembryology |
| 650 | 0 | 4 |
_aLymphedema _xgenetics |
| 650 | 0 | 4 | _aPakistan |
| 650 | 0 | 4 |
_aPolydactyly _xgenetics |
| 650 | 0 | 4 | _aPolymorphism, Single Nucleotide |
| 650 | 0 | 4 |
_aProtein-Losing Enteropathies _xgenetics |
| 650 | 0 | 4 |
_aTumor Suppressor Proteins _xgenetics |
| 700 | 1 | _aChodirker, Bernard | |
| 700 | 1 | _aSimard, Louise | |
| 700 | 1 | _aEl-Matary, Wael | |
| 700 | 1 | _aHanlon-Dearman, Ana | |
| 700 | 1 | _aSchwartzentruber, Jeremy | |
| 700 | 1 | _aMajewski, Jacek | |
| 700 | 1 | _aRockman-Greenberg, Cheryl | |
| 773 | 0 |
_tBMC medical genetics _gvol. 16 _gp. 28 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1186/s12881-015-0175-0 _zAvailable from publisher's website |
| 999 |
_c24854651 _d24854651 |
||