| 000 | 01721 a2200517 4500 | ||
|---|---|---|---|
| 005 | 20250517133117.0 | ||
| 264 | 0 | _c20180316 | |
| 008 | 201803s 0 0 eng d | ||
| 022 | _a1399-0004 | ||
| 024 | 7 |
_a10.1111/cge.12964 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBarraza-García, J | |
| 245 | 0 | 0 |
_aBroadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia. _h[electronic resource] |
| 260 |
_bClinical genetics _cJul 2017 |
||
| 300 |
_a91-98 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 |
_aApoptosis Regulatory Proteins _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aDwarfism _xdiagnostic imaging |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMusculoskeletal Abnormalities _xdiagnostic imaging |
| 650 | 0 | 4 |
_aMutation, Missense _xgenetics |
| 650 | 0 | 4 |
_aOsteochondrodysplasias _xdiagnostic imaging |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aRNA, Long Noncoding _xgenetics |
| 650 | 0 | 4 |
_aRibonucleoproteins _xgenetics |
| 700 | 1 | _aRivera-Pedroza, C I | |
| 700 | 1 | _aHisado-Oliva, A | |
| 700 | 1 | _aBelinchón-Martínez, A | |
| 700 | 1 | _aSentchordi-Montané, L | |
| 700 | 1 | _aDuncan, E L | |
| 700 | 1 | _aClark, G R | |
| 700 | 1 | _aDel Pozo, A | |
| 700 | 1 | _aIbáñez-Garikano, K | |
| 700 | 1 | _aOffiah, A | |
| 700 | 1 | _aPrieto-Matos, P | |
| 700 | 1 | _aCormier-Daire, V | |
| 700 | 1 | _aHeath, K E | |
| 773 | 0 |
_tClinical genetics _gvol. 92 _gno. 1 _gp. 91-98 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/cge.12964 _zAvailable from publisher's website |
| 999 |
_c26765514 _d26765514 |
||