000 01437 a2200469 4500
005 20250517144705.0
264 0 _c20180703
008 201807s 0 0 eng d
022 _a1399-0004
024 7 _a10.1111/cge.13020
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aSharony, R
245 0 0 _aPrenatal course of metaphyseal anadysplasia associated with homozygous mutation in MMP9 identified by exome sequencing.
_h[electronic resource]
260 _bClinical genetics
_cDec 2017
300 _a645-648 p.
_bdigital
500 _aPublication Type: Journal Article
650 0 4 _aAbortion, Eugenic
650 0 4 _aExome
650 0 4 _aFemale
650 0 4 _aGene Expression
650 0 4 _aHomozygote
650 0 4 _aHumans
650 0 4 _aInfant
650 0 4 _aLimb Deformities, Congenital
_xdiagnosis
650 0 4 _aMale
650 0 4 _aMatrix Metalloproteinase 9
_xgenetics
650 0 4 _aMutation
650 0 4 _aOsteochondrodysplasias
_xdiagnosis
650 0 4 _aPedigree
650 0 4 _aPhenotype
650 0 4 _aPrenatal Diagnosis
650 0 4 _aSequence Analysis, DNA
650 0 4 _aSiblings
700 1 _aBorochowitz, Z
700 1 _aCohen, L
700 1 _aShtorch-Asor, A
700 1 _aRosenfeld, R
700 1 _aModai, S
700 1 _aReinstein, E
773 0 _tClinical genetics
_gvol. 92
_gno. 6
_gp. 645-648
856 4 0 _uhttps://doi.org/10.1111/cge.13020
_zAvailable from publisher's website
999 _c27015267
_d27015267