Case Report: Compound Heterozygous Variants of the MAN1B1 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 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,...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9502887/
https://www.ncbi.nlm.nih.gov/pubmed/36142510
http://dx.doi.org/10.3390/ijms231810606

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