A Case of Opsismodysplasia with a Novel INPPL1 Variant
Opsismodysplasia is an extremely rare skeletal disorder, and with this case, we further expand the clinical and molecular spectrum of opsismodysplasia.
Authors
- Tuğba Daşar (ORCID: https://orcid.org/0000-0002-1493-4352)
- Pelin Özlem Şimşek‐Kiper (ORCID: https://orcid.org/0000-0001-7244-7766)
- Gülen Eda Ütine (ORCID: https://orcid.org/0000-0001-6577-5542)
- Ebru Aypar
Institutions
- Bilkent University (TR)
- Başkent University Hospital (TR)
- Hacettepe University (TR)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2024-09-30
- DOI
- https://doi.org/10.1159/000540189
- Citations
- 1
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.55