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

Krøigård, Anne Bruun

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

Publication Type: Case Reports; Journal Article

1873-2763

10.1016/j.bone.2016.08.023 doi


Adolescent
Bone Density--genetics
Dwarfism--diagnostic imaging
Female
Fetal Growth Retardation--diagnostic imaging
Humans
Male
Microcephaly--diagnostic imaging
Middle Aged
Mutation--genetics
Osteochondrodysplasias--diagnostic imaging
RNA, Small Nuclear--genetics
Spliceosomes--genetics
Young Adult