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Bone structure in two adult subjects with impaired minor spliceosome function resulting from RNU4ATAC mutations causing microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1).

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author: Morten Frost  Anja L Frederiksen  Martin J Larsen  Lilian Bomme Ousager  Anne Bruun Krøigård 

Publication date August 30, 2016
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