Krøigård, Anne Bruun <br/><br/>
Bone structure in two adult subjects with impaired minor spliceosome function resulting from RNU4ATAC mutations causing microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1).  [electronic resource] 

 -  Bone  11 2016 
 - 145-149 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1873-2763 
<br/><br/><label>Standard No.: </label>10.1016/j.bone.2016.08.023  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Bone Density--genetics<br/>Dwarfism--diagnostic imaging<br/>Female<br/>Fetal Growth Retardation--diagnostic imaging<br/>Humans<br/>Male<br/>Microcephaly--diagnostic imaging<br/>Middle Aged<br/>Mutation--genetics<br/>Osteochondrodysplasias--diagnostic imaging<br/>RNA, Small Nuclear--genetics<br/>Spliceosomes--genetics<br/>Young Adult