NANS-CDG: Expanding clinical insights with a novel patient with novel variants.

Abstract excerpt

N-acetyl-d-neuraminic acid synthase-congenital disorder of glycosylation (NANS-CDG) is a rare autosomal recessive defect in the N-acetyl-neuraminic acid biosynthesis pathway. Herein, we report the first Korean NANS-CDG patient. A 10-year-old boy was referred to our clinic because of incidental radiographic findings indicating spondyloepimetaphyseal dysplasia. The patient had microcephaly, cavum septum pellucidum,...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Child
• Share to Congenital Disorders of Glycosylation
• Share to Exome Sequencing