Spondylo-ocular Syndrome Due to a Novel Variant in XYLT2 in an Omani Patient
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DOI: 10.1055/s-0040-1715113
Abstract: Spondylo-ocular syndrome (SOS) is a rare autosomal recessive disorder and affects primarily ocular and spinal tissues. This case report presents an Omani child with a novel homozygous variant, c.2070 G > A (p.Trp690Ter) in XYLT2 associated with… read more here.
Keywords: ocular syndrome; xylt2; due novel; syndrome due ... See more keywords