| 000 | 01288 a2200409 4500 | ||
|---|---|---|---|
| 005 | 20250518082144.0 | ||
| 264 | 0 | _c20210329 | |
| 008 | 202103s 0 0 eng d | ||
| 022 | _a2324-9269 | ||
| 024 | 7 |
_a10.1002/mgg3.1139 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aZheng, Wen-Bin | |
| 245 | 0 | 0 |
_aNovel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita. _h[electronic resource] |
| 260 |
_bMolecular genetics & genomic medicine _c03 2020 |
||
| 300 |
_ae1139 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aCollagen Type II _xchemistry |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aOsteochondrodysplasias _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aProtein Domains |
| 700 | 1 | _aLi, Lu-Jiao | |
| 700 | 1 | _aZhao, Di-Chen | |
| 700 | 1 | _aWang, Ou | |
| 700 | 1 | _aJiang, Yan | |
| 700 | 1 | _aXia, Wei-Bo | |
| 700 | 1 | _aXing, Xiao-Ping | |
| 700 | 1 | _aLi, Mei | |
| 773 | 0 |
_tMolecular genetics & genomic medicine _gvol. 8 _gno. 3 _gp. e1139 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/mgg3.1139 _zAvailable from publisher's website |
| 999 |
_c30552400 _d30552400 |
||