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]
Producer: 20180103Description: 145-149 p. digitalISSN:- 1873-2763
- 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
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Publication Type: Case Reports; Journal Article
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