Article
Case Report: Compound Heterozygous Variants of the MAN1B1 Gene in a Russian Patient with Rafiq Syndrome.
International journal of molecular sciences - 13 Sept 2022
Zhalsanova Irina Zh, Ravzhaeva Ekatherina G, Postrigan Anna E, Seitova Gulnara N, Zhigalina Daria I, Udalova Vasilisa Yu, Danina Maryana M, Kanivets Ilya V, Skryabin Nikolay A
Abstract excerpt
Rafiq syndrome (RAFQS) is a congenital disorder of glycosylation (CDG) that is caused by mutations in the MAN1B1 gene and characterized by impaired protein and lipid glycosylation. RAFQS is characterized by a delay in intellectual and motor development, facial and other dysmorphism, truncal obesity, behavior problems, and hypotonia. We describe a Russian patient with delayed intellectual and motor development, a...
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