- Tytuł:
- Osteoporosis-pseudoglioma syndrome: clinical, genetic, and treatment-response study of 10 new cases in Greece.
- Autorzy:
- Źródło:
- European journal of pediatrics [Eur J Pediatr] 2019 Mar; Vol. 178 (3), pp. 323-329. Date of Electronic Publication: 2018 Nov 29.
- Typ publikacji:
- Journal Article
- MeSH Terms:
-
Osteogenesis Imperfecta*/complications
Osteogenesis Imperfecta*/diagnosis
Osteogenesis Imperfecta*/drug therapy
Osteogenesis Imperfecta*/genetics
Bone Density Conservation Agents/*therapeutic use
Diphosphonates/*therapeutic use
Low Density Lipoprotein Receptor-Related Protein-5/*genetics
Child ; Child, Preschool ; DNA Mutational Analysis ; Female ; Follow-Up Studies ; Genetic Markers ; Genotyping Techniques ; Greece ; Heterozygote ; Homozygote ; Humans ; Infant ; Male ;Osteoporotic Fractures /etiology ;Osteoporotic Fractures /prevention & control ; Pedigree ; Phenotype ; Sequence Deletion ; Treatment Outcome - SCR Disease Name:
- Osteoporosis-pseudoglioma syndrome
Czasopismo naukowe