| 000 | 01472 a2200409 4500 | ||
|---|---|---|---|
| 005 | 20250517113602.0 | ||
| 264 | 0 | _c20180103 | |
| 008 | 201801s 0 0 eng d | ||
| 022 | _a1873-2763 | ||
| 024 | 7 |
_a10.1016/j.bone.2016.08.023 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aKrøigård, Anne Bruun | |
| 245 | 0 | 0 |
_aBone structure in two adult subjects with impaired minor spliceosome function resulting from RNU4ATAC mutations causing microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1). _h[electronic resource] |
| 260 |
_bBone _c11 2016 |
||
| 300 |
_a145-149 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 |
_aBone Density _xgenetics |
| 650 | 0 | 4 |
_aDwarfism _xdiagnostic imaging |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFetal Growth Retardation _xdiagnostic imaging |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMicrocephaly _xdiagnostic imaging |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 |
_aOsteochondrodysplasias _xdiagnostic imaging |
| 650 | 0 | 4 |
_aRNA, Small Nuclear _xgenetics |
| 650 | 0 | 4 |
_aSpliceosomes _xgenetics |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aFrost, Morten | |
| 700 | 1 | _aLarsen, Martin Jakob | |
| 700 | 1 | _aOusager, Lilian Bomme | |
| 700 | 1 | _aFrederiksen, Anja Lisbeth | |
| 773 | 0 |
_tBone _gvol. 92 _gp. 145-149 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.bone.2016.08.023 _zAvailable from publisher's website |
| 999 |
_c26386637 _d26386637 |
||