A Case of Rafiq Syndrome (MAN1B1-CDG) in a Palestinian Child, With Brief Literature Review of 44 Cases

A Case of Rafiq Syndrome (MAN1B1-CDG) in a Palestinian Child, With Brief Literature Review of 44 Cases

Rafiq syndrome, MAN1B1-CDG, was described in 2010 and associated with genetic mutation in MAN1B1 gene in 2011. The disorder follows an autosomal recessive pattern of inheritance and typically presents with specific facial dysmorphism, intellectual disability, developmental delay, obesity, and hypoto...

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Main Authors: Reema Iskafi MD, Bahaa AbuRahmeh MD, Roa’a Aljuneidi MD, Hidaya AlShweiki MD, Siraj Abdelnabi MD, Anas Abukhalaf MBBS, Bara’ Maraqa PBoS
Format: Article
Language:English
Published: SAGE Publishing 2025-01-01
Series:Journal of Investigative Medicine High Impact Case Reports
Online Access:https://doi.org/10.1177/23247096251313731
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https://doi.org/10.1177/23247096251313731

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