A novel variant in the FLNB gene associated with spondylocarpotarsal synostosis syndrome.
Hina QasimHayat KhanHumaira ZebAkmal AhmadMuhammad IlyasMuhammad ZahoorMuhammad Naveed UmarRiaz UllahEssam A Ali
Published in: Journal of basic and clinical physiology and pharmacology (2024)
The findings have highlighted the importance of the molecular diagnosis in SCT (spondylocarpotarsal synostosis syndrome) for genetic risk counselling in consanguineous families.