مقال بحثي وصول مفتوح
An association between bilateral keratoconus in a patient with spondyloocular syndrome and xylosyltransferase II gene mutation
Spondyloocular syndrome (SOS) is a rare autosomal-recessive disorder. Since 2015, SOS has been linked to mutations in xylosyltransferase II (XYLT2) locus. Phenotypic features could affect multiple systems, such as sight, hearing, or bones. Herein, we report a case of SOS with multiple bone fractures without trauma, bil …