TY  - GEN
AU  - Krøigård,Anne Bruun
AU  - Frost,Morten
AU  - Larsen,Martin Jakob
AU  - Ousager,Lilian Bomme
AU  - Frederiksen,Anja Lisbeth
TI  - Bone structure in two adult subjects with impaired minor spliceosome function resulting from RNU4ATAC mutations causing microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1)
SN  - 1873-2763
PY  - 2018///0103
KW  - Adolescent
KW  - Bone Density
KW  - genetics
KW  - Dwarfism
KW  - diagnostic imaging
KW  - Female
KW  - Fetal Growth Retardation
KW  - Humans
KW  - Male
KW  - Microcephaly
KW  - Middle Aged
KW  - Mutation
KW  - Osteochondrodysplasias
KW  - RNA, Small Nuclear
KW  - Spliceosomes
KW  - Young Adult
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.bone.2016.08.023
ER  -