| 000 | 01327 a2200373 4500 | ||
|---|---|---|---|
| 005 | 20250517153854.0 | ||
| 264 | 0 | _c20170613 | |
| 008 | 201706s 0 0 eng d | ||
| 022 | _a1536-5964 | ||
| 024 | 7 |
_a10.1097/MD.0000000000006914 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLi, Niu | |
| 245 | 0 | 0 |
_aExome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental delay: Case report and literature review. _h[electronic resource] |
| 260 |
_bMedicine _cMay 2017 |
||
| 300 |
_ae6914 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Review | ||
| 650 | 0 | 4 | _aCodon, Nonsense |
| 650 | 0 | 4 |
_aDevelopmental Disabilities _xcomplications |
| 650 | 0 | 4 |
_aEye Abnormalities _xcomplications |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMicrocephaly _xcomplications |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_abeta Catenin _xgenetics |
| 700 | 1 | _aXu, Yufei | |
| 700 | 1 | _aLi, Guoqiang | |
| 700 | 1 | _aYu, Tingting | |
| 700 | 1 | _aYao, Ru-En | |
| 700 | 1 | _aWang, Xiumin | |
| 700 | 1 | _aWang, Jian | |
| 773 | 0 |
_tMedicine _gvol. 96 _gno. 20 _gp. e6914 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1097/MD.0000000000006914 _zAvailable from publisher's website |
| 999 |
_c27183038 _d27183038 |
||