Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia. [electronic resource]
Producer: 20180316Description: 91-98 p. digitalISSN:- 1399-0004
- Apoptosis Regulatory Proteins -- genetics
- Child
- Child, Preschool
- Dwarfism -- diagnostic imaging
- Female
- Genetic Predisposition to Disease
- Homozygote
- Humans
- Male
- Musculoskeletal Abnormalities -- diagnostic imaging
- Mutation, Missense -- genetics
- Osteochondrodysplasias -- diagnostic imaging
- Phenotype
- RNA, Long Noncoding -- genetics
- Ribonucleoproteins -- genetics
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Publication Type: Journal Article
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