000 01505 a2200397 4500
005 20250517040436.0
264 0 _c20160829
008 201608s 0 0 eng d
022 _a1552-4833
024 7 _a10.1002/ajmg.a.37227
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aGrønborg, Sabine
245 0 0 _aMonozygotic twins with a de novo 0.32 Mb 16q24.3 deletion, including TUBB3 presenting with developmental delay and mild facial dysmorphism but without overt brain malformation.
_h[electronic resource]
260 _bAmerican journal of medical genetics. Part A
_cNov 2015
300 _a2731-6 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Twin Study
650 0 4 _aBase Pairing
_xgenetics
650 0 4 _aBrain
_xabnormalities
650 0 4 _aChromosomes, Human, Pair 16
_xgenetics
650 0 4 _aComparative Genomic Hybridization
650 0 4 _aDevelopmental Disabilities
_xgenetics
650 0 4 _aFacies
650 0 4 _aHumans
650 0 4 _aInfant
650 0 4 _aInfant, Newborn
650 0 4 _aMagnetic Resonance Imaging
650 0 4 _aSequence Deletion
650 0 4 _aTubulin
_xgenetics
650 0 4 _aTwins, Monozygotic
_xgenetics
700 1 _aKjaergaard, Susanne
700 1 _aHove, Hanne
700 1 _aLarsen, Vibeke André
700 1 _aKirchhoff, Maria
773 0 _tAmerican journal of medical genetics. Part A
_gvol. 167A
_gno. 11
_gp. 2731-6
856 4 0 _uhttps://doi.org/10.1002/ajmg.a.37227
_zAvailable from publisher's website
999 _c25015237
_d25015237