Case Report: Compound Heterozygous Variants of the <i>MAN1B1</i> Gene in a Russian Patient with Rafiq Syndrome

Case Report: Compound Heterozygous Variants of the <i>MAN1B1</i> Gene in a Russian Patient with Rafiq Syndrome

Rafiq syndrome (RAFQS) is a congenital disorder of glycosylation (CDG) that is caused by mutations in the <i>MAN1B1</i> gene and characterized by impaired protein and lipid glycosylation. RAFQS is characterized by a delay in intellectual and motor development, facial and other dysmorphis...

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Main Authors: Irina Zh. Zhalsanova, Ekatherina G. Ravzhaeva, Anna E. Postrigan, Gulnara N. Seitova, Daria I. Zhigalina, Vasilisa Yu. Udalova, Maryana M. Danina, Ilya V. Kanivets, Nikolay A. Skryabin
Format: Article
Language:English
Published: MDPI AG 2022-09-01
Series:International Journal of Molecular Sciences
Subjects:
Rafiq syndrome
congenital disorders of glycosylation
<i>MAN1B</i>
next-generation sequencing
Online Access:https://www.mdpi.com/1422-0067/23/18/10606

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