| 000 | 01029 a2200301 4500 | ||
|---|---|---|---|
| 005 | 20250517061159.0 | ||
| 264 | 0 | _c20160208 | |
| 008 | 201602s 0 0 eng d | ||
| 022 | _a1399-0004 | ||
| 024 | 7 |
_a10.1111/cge.12680 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aAminkeng, F | |
| 245 | 0 | 0 |
_aPDGFRB mutation causes autosomal-dominant Penttinen syndrome. _h[electronic resource] |
| 260 |
_bClinical genetics _cDec 2015 |
||
| 300 |
_a531 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Comment | ||
| 650 | 0 | 4 |
_aAcro-Osteolysis _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLimb Deformities, Congenital _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aPoint Mutation _xgenetics |
| 650 | 0 | 4 |
_aProgeria _xgenetics |
| 650 | 0 | 4 |
_aReceptor, Platelet-Derived Growth Factor beta _xgenetics |
| 650 | 0 | 4 |
_aSignal Transduction _xgenetics |
| 773 | 0 |
_tClinical genetics _gvol. 88 _gno. 6 _gp. 531 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/cge.12680 _zAvailable from publisher's website |
| 999 |
_c25392998 _d25392998 |
||