| 000 | 01210 a2200385 4500 | ||
|---|---|---|---|
| 005 | 20250516154145.0 | ||
| 264 | 0 | _c20141121 | |
| 008 | 201411s 0 0 eng d | ||
| 022 | _a1399-0004 | ||
| 024 | 7 |
_a10.1111/cge.12199 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aKehrer, M | |
| 245 | 0 | 0 |
_aFloating-Harbor syndrome: SRCAP mutations are not restricted to exon 34. _h[electronic resource] |
| 260 |
_bClinical genetics _cMay 2014 |
||
| 300 |
_a498-9 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Letter | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 |
_aAdenosine Triphosphatases _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aCraniofacial Abnormalities _xgenetics |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 |
_aGrowth Disorders _xgenetics |
| 650 | 0 | 4 |
_aHeart Septal Defects, Ventricular _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 700 | 1 | _aBeckmann, A | |
| 700 | 1 | _aWyduba, J | |
| 700 | 1 | _aFinckh, U | |
| 700 | 1 | _aDufke, A | |
| 700 | 1 | _aGaiser, U | |
| 700 | 1 | _aTzschach, A | |
| 773 | 0 |
_tClinical genetics _gvol. 85 _gno. 5 _gp. 498-9 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/cge.12199 _zAvailable from publisher's website |
| 999 |
_c22832923 _d22832923 |
||