A <i>De novo</i> Mutation in the <i>COL1A1</i> Gene Leading to Severe Osteogenesis Imperfecta: Case Report and Review of the Literature
Introduction Osteogenesis imperfecta (OI) is the most common monogenic inherited skeletal dysplasia disorder. Mutations in the COL1A1/COL1A2 gene cause ∼85 to 90% of OI. Studies of cases have demonstrated that missense mutations are the primary cause of OI, with poor prognosis.
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Book |
| Published: |
Thieme Medical Publishers, Inc.,
2024-07-01T00:00:00Z.
|
| Subjects: | |
| Online Access: | Connect to this object online. |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Internet
Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
|---|---|
| Copy 1 | Available |