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