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Article

SRD5A3-CDG: A Patient with a Novel Variant and Brain Neoplasm.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP - 1 Dec 2022

Kasapkara Cigdem Seher, Olgac Asburce, Derinkuyu Betul Emine, Oztoprak Ulkuhan, Jaeken Jaak

Abstract excerpt

Congenital disorders of glycosylation (CDGs) are a large group of genetic diseases with impaired glycosylation of glycoproteins and glycolipids, and glycosylphosphatidylinositol anchor synthesis. Steroid 5α-reductase 3 (SRD5A3)-CDG is a CDG type I with a clinical spectrum of neurological, ophthalmological, dermatological and hepatic symptoms. Although CDGs are not directly related to malignancies, it is well...

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Identifiers

PMID: 36597345
DOI: 10.29271/jcpsp.2022.Supp0.SS221

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