Spondylo-ocular Syndrome Due to a Novel Variant in XYLT2 in an Omani Patient
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Spondylo-ocular syndrome (SOS) is a rare autosomal recessive disorder and affects primarily ocular and spinal tissues. This case report presented an Omani child with a novel homozygous variant, c.2070 G > A (p.Trp690Ter) in XYLT2 associated with SOS for the fi... ...
