| 000 | 01828 a2200553 4500 | ||
|---|---|---|---|
| 005 | 20250518035542.0 | ||
| 264 | 0 | _c20201019 | |
| 008 | 202010s 0 0 eng d | ||
| 022 | _a1878-0849 | ||
| 024 | 7 |
_a10.1016/j.ejmg.2019.04.015 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aRedwood, A | |
| 245 | 0 | 0 |
_aCongenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanisms. _h[electronic resource] |
| 260 |
_bEuropean journal of medical genetics _cFeb 2020 |
||
| 300 |
_a103658 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 |
_aCataract _xcongenital |
| 650 | 0 | 4 | _aCohort Studies |
| 650 | 0 | 4 | _aDatabases, Genetic |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenes, X-Linked |
| 650 | 0 | 4 |
_aHeart Septal Defects _xdiagnosis |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 |
_aMicrophthalmos _xdiagnosis |
| 650 | 0 | 4 | _aMosaicism |
| 650 | 0 | 4 | _aOligonucleotide Array Sequence Analysis |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aPoint Mutation |
| 650 | 0 | 4 |
_aProto-Oncogene Proteins _xgenetics |
| 650 | 0 | 4 |
_aRare Diseases _xgenetics |
| 650 | 0 | 4 |
_aRepressor Proteins _xgenetics |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 | _aSequence Deletion |
| 700 | 1 | _aDouzgou, S | |
| 700 | 1 | _aWaller, S | |
| 700 | 1 | _aRamsden, S | |
| 700 | 1 | _aRoberts, A | |
| 700 | 1 | _aBonin, H | |
| 700 | 1 | _aLloyd, I C | |
| 700 | 1 | _aAshworth, J | |
| 700 | 1 | _aBlack, G C M | |
| 700 | 1 | _aClayton-Smith, J | |
| 773 | 0 |
_tEuropean journal of medical genetics _gvol. 63 _gno. 2 _gp. 103658 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ejmg.2019.04.015 _zAvailable from publisher's website |
| 999 |
_c29650419 _d29650419 |
||