Associated Papers
A new case of Rafiq syndrome with coexisting thyroid dyshormonogenesis type 6 in a Chinese patient: case report and literature review.
Qi R et al.
Frontiers in Endocrinology, 2025
Case Report: Compound Heterozygous Variants of the MAN1B1 Gene in a Russian Patient with Rafiq Syndrome.
Zhalsanova IZ et al.
International Journal of Molecular Sciences, 2022
Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl-oligosaccharide alpha-1,2-mannnosidase-congenital disorders of glycosylation (MAN1B1-CDG).
Kemme L et al.
Jimd Reports, 2021
MAN1B-CDG: Novel variants with a distinct phenotype and review of literature.
Balasubramanian M et al.
European Journal of Medical Genetics, 2019
A Case of Rafiq Syndrome (MAN1B1-CDG) in a Palestinian Child, With Brief Literature Review of 44 Cases.
Iskafi R et al.
Journal of Investigative Medicine High Impact Case Reports, 0
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