article_metadata: Reema Iskafi Bahaa AbuRahmeh Roa'a Aljuneidi Hidaya AlShweiki Siraj Abdelnabi Anas Abukhalaf Bara' Maraqa
article_metadata: 10.1177/23247096251313731
article_metadata: J Investig Med High Impact Case Rep
article_metadata: 2025 Jan-Dec:13:23247096251313731.
article_metadata: man1b1 mutation rafiq syndrome case report intellectual disability truncal obesity
article_metadata: CC BY-NC
article_metadata: https://pubmed.ncbi.nlm.nih.gov/39840888/
article_metadata: Congenital Disorders of Glycosylation / diagnosis Congenital Disorders of Glycosylation / genetics Intellectual Disability / genetics
article_metadata: Congenital Disorders of Glycosylation / diagnosis Congenital Disorders of Glycosylation / genetics Intellectual Disability / genetics Case Reports Review Arabs / genetics Child, Preschool Developmental Disabilities / genetics Exome Sequencing Humans Male Muscle Hypotonia / genetics Mutation Obesity / genetics Pedigree
article_metadata: PMC11755523
article_metadata: 39840888
article_metadata: A Case of Rafiq Syndrome (MAN1B1-CDG) in a Palestinian Child, With Brief Literature Review of 44 Cases
article_metadata: 2025