Clinical genetics of spondylocostal dysostosis: A mini review
Abstrak
Spondylocostal dysostosis is a genetic defect associated with severe rib and vertebrae malformations. In recent years, extensive clinical and molecular diagnosis advancements enabled us to identify disease-causing variants in different genes for such severe conditions. The identification of novel candidate genes enabled us to understand the developmental biology and molecular and cellular mechanisms involved in the etiology of these rare diseases. Here, we discuss the clinical and molecular targets associated with spondylocostal dysostosis, including clinical evaluation, genes, and pathways involved. This review might help us understand the basics of such a severe disorder, which might help in proper clinical characterization and help in future therapeutic strategies.
Topik & Kata Kunci
Penulis (6)
Muhammad Umair
Muhammad Younus
Sarfraz Shafiq
Anam Nayab
Majid Alfadhel
Majid Alfadhel
Akses Cepat
- Tahun Terbit
- 2022
- Sumber Database
- DOAJ
- DOI
- 10.3389/fgene.2022.996364
- Akses
- Open Access ✓