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 |