ALG11-CDG: novel variant and review of the literature.
Ayşenur Engin ErdalAhmet Cevdet CeylanKıvılcım GücüyenerRıdvan Murat ÖktemOya Kıreker KöylüÇiğdem Seher KasapkaraPublished in: Journal of pediatric endocrinology & metabolism : JPEM (2023)
In patients with a possible congenital defect of glycosylation, a screening test such as CDT analysis is suggested. To discover novel mutations in this rare disease group, expanded genetic analysis should be performed.
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