Genotype-phenotype correlations in 294 pediatric patients with osteogenesis imperfecta.
OI
genetic variants
genotype–phenotype
orthopedics
pediatrics
Journal
JBMR plus
ISSN: 2473-4039
Titre abrégé: JBMR Plus
Pays: England
ID NLM: 101707013
Informations de publication
Date de publication:
Nov 2024
Nov 2024
Historique:
received:
24
07
2024
revised:
22
08
2024
accepted:
19
09
2024
medline:
25
10
2024
pubmed:
25
10
2024
entrez:
25
10
2024
Statut:
epublish
Résumé
Osteogenesis imperfecta (OI) is an inherited disorder characterized by bone fragility with extraskeletal manifestations mostly due to
Identifiants
pubmed: 39450342
doi: 10.1093/jbmrpl/ziae125
pii: ziae125
pmc: PMC11499677
doi:
Types de publication
Journal Article
Langues
eng
Pagination
ziae125Informations de copyright
© The Author(s) 2024. Published by Oxford University Press on behalf of the American Society for Bone and Mineral Research.
Déclaration de conflit d'intérêts
M.W. serves on the Osteogenesis Imperfecta Medical Advisory Council, is a board member for the Jansen’s Foundation, served on an advisory board for Ultragenyx. None of the above conflicted with this work.