Expanded phenotypes and pathogenesis of geleophysic dysplasia 3 resulted from a de novo LTBP3 mutation: A case report
As a rare multi-system musculoskeletal disorder, geleophysic dysplasia 3 necessitates early prenatal diagnosis and multidisciplinary consultation in order to facilitate further diagnosis and evaluation of the patient and the fetus.
Authors
- Jie Liang (ORCID: https://orcid.org/0009-0009-0934-433X)
- Huimin Tao
- Jingfang Zhai (ORCID: https://orcid.org/0000-0001-7109-3193)
- Yu Han
- Bei Zhang
- Xuezhen Wang (ORCID: https://orcid.org/0000-0003-4907-2112)
- Jiebin Wu
Institutions
- Xuzhou Medical College (CN)
- Xuzhou Central Hospital (CN)
Publication Details
- Journal
- Medicine
- Published
- 2024-12-20
- DOI
- https://doi.org/10.1097/md.0000000000041000
- Citations
- 1
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.55