000 | 01360 a2200421 4500 | ||
---|---|---|---|
005 | 20250516104525.0 | ||
264 | 0 | _c20130821 | |
008 | 201308s 0 0 eng d | ||
022 | _a1744-5094 | ||
024 | 7 |
_a10.3109/13816810.2012.710707 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aChandra, Aman | |
245 | 0 | 0 |
_aCraniosynostosis with ectopia lentis and a homozygous 20-base deletion in ADAMTSL4. _h[electronic resource] |
260 |
_bOphthalmic genetics _c |
||
300 |
_a78-82 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aADAMTS Proteins |
650 | 0 | 4 | _aBase Sequence |
650 | 0 | 4 |
_aCraniosynostoses _xgenetics |
650 | 0 | 4 |
_aEctopia Lentis _xgenetics |
650 | 0 | 4 |
_aExons _xgenetics |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aHomozygote |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aInfant |
650 | 0 | 4 | _aMolecular Sequence Data |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 | _aPedigree |
650 | 0 | 4 | _aSequence Deletion |
650 | 0 | 4 |
_aThrombospondins _xgenetics |
700 | 1 | _aAragon-Martin, Jose Antonio | |
700 | 1 | _aSharif, Saba | |
700 | 1 | _aParulekar, Manoj | |
700 | 1 | _aChild, Anne | |
700 | 1 | _aArno, Gavin | |
773 | 0 |
_tOphthalmic genetics _gvol. 34 _gno. 1-2 _gp. 78-82 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.3109/13816810.2012.710707 _zAvailable from publisher's website |
999 |
_c22006266 _d22006266 |