A New COL1A1 Mutation Associated With Type I Osteogenesis Imperfecta: Treatment Options for a Woman of Childbearing Age.
COL1A1 mutation
bone
fractures
osteogenesis imperfecta
pregnancy
young woman
Journal
JCEM case reports
ISSN: 2755-1520
Titre abrégé: JCEM Case Rep
Pays: England
ID NLM: 9918609886906676
Informations de publication
Date de publication:
Jul 2023
Jul 2023
Historique:
received:
13
04
2023
medline:
1
11
2023
pubmed:
1
11
2023
entrez:
1
11
2023
Statut:
epublish
Résumé
Osteogenesis imperfecta (OI) is a rare heritable skeletal dysplasia, clinically characterized by abnormal bone fragility and predisposition to fractures. Here, we describe the case of a 30-year-old woman harboring a novel frameshift variant in the
Identifiants
pubmed: 37908991
doi: 10.1210/jcemcr/luad096
pii: luad096
pmc: PMC10580496
doi:
Types de publication
Case Reports
Langues
eng
Pagination
luad096Informations de copyright
© The Author(s) 2023. Published by Oxford University Press on behalf of the Endocrine Society.
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