Associated Papers
Arterial Tortuosity Syndrome: A Longitudinal Assessment of Cardiovascular Features and Interventions From the Collaborative for Longitudinal Aortic Research in the Young (CLARITY).
Salamat B et al.
American Journal of Medical Genetics. Part A, 2025
Arterial Tortuosity Syndrome in a Newborn: A Case Report With Literature Review.
Al-Blushi S et al.
Cureus, 2022
Rare variants and HLA haplotypes associated in patients with neuromyelitis optica spectrum disorders.
Tabansky I et al.
Frontiers in Immunology, 2022
36268024 (PubMed )
Supplement: Table_1.xlsx › Supplementary_Table_1
Arterial tortuosity syndrome: 40 new families and literature review.
Beyens A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.
Sun Y et al.
Scientific Reports, 2018
30076350 (PubMed )
Supplement: 41598_2018_30151_MOESM1_ESM.docx
Clinical Variability in Two Macedonian Families with Arterial Tortuosity Syndrome.
Kocova M et al.
Balkan Journal of Medical Genetics : Bjmg, 2018
Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.
Ritelli M et al.
Bmc Medical Genetics, 2014
Array comparative genomic hybridization as a diagnostic tool for syndromic heart defects.
Breckpot J et al.
The Journal of Pediatrics, 2010
Arterial tortuosity syndrome in two Italian paediatric patients.
Ritelli M et al.
Orphanet Journal of Rare Diseases, 2009
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.
Callewaert BL et al.
Human Mutation, 2008
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