Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families

MeSH terms

• Arteries / abnormalities*
• Connective Tissue Diseases / genetics*
• Consanguinity
• DNA Mutational Analysis
• Family Health
• Glucose Transport Proteins, Facilitative / genetics*
• Humans
• Mutation, Missense*
• Pedigree
• Phenotype
• Saudi Arabia