| 000 | 01720 a2200481 4500 | ||
|---|---|---|---|
| 005 | 20250517171615.0 | ||
| 264 | 0 | _c20180508 | |
| 008 | 201805s 0 0 eng d | ||
| 022 | _a1752-1947 | ||
| 024 | 7 |
_a10.1186/s13256-017-1396-y _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aHiguchi, Yousuke | |
| 245 | 0 | 0 |
_aA novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature. _h[electronic resource] |
| 260 |
_bJournal of medical case reports _cAug 2017 |
||
| 300 |
_a237 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Review | ||
| 650 | 0 | 4 |
_aArthritis _xcomplications |
| 650 | 0 | 4 |
_aCataract _xdiagnosis |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aCleft Palate _xetiology |
| 650 | 0 | 4 |
_aCollagen Type II _xgenetics |
| 650 | 0 | 4 |
_aCollagen Type XI _xdeficiency |
| 650 | 0 | 4 |
_aConnective Tissue Diseases _xcomplications |
| 650 | 0 | 4 |
_aCraniofacial Abnormalities _xdiagnosis |
| 650 | 0 | 4 | _aDiagnosis, Differential |
| 650 | 0 | 4 |
_aGrowth Disorders _xetiology |
| 650 | 0 | 4 |
_aHearing Loss, Sensorineural _xcomplications |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMicrognathism _xetiology |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aOsteochondrodysplasias _xdiagnosis |
| 650 | 0 | 4 |
_aPalate, Soft _xabnormalities |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aRetinal Detachment _xcomplications |
| 700 | 1 | _aHasegawa, Kosei | |
| 700 | 1 | _aYamashita, Miho | |
| 700 | 1 | _aTanaka, Hiroyuki | |
| 700 | 1 | _aTsukahara, Hirokazu | |
| 773 | 0 |
_tJournal of medical case reports _gvol. 11 _gno. 1 _gp. 237 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1186/s13256-017-1396-y _zAvailable from publisher's website |
| 999 |
_c27498730 _d27498730 |
||