Associated Papers
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 2025
41300778 (PubMed )
Supplement: genes-16-01325-s001.zip › genes-3897287-supplementary.pdf
Arterial Tortuosity Syndrome in a Newborn: A Case Report With Literature Review.
Al-Blushi S et al.
Cureus, 2022
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
GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts.
Gamberucci A et al.
International Journal of Molecular Sciences, 2017
Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport.
Németh CE et al.
Febs Letters, 2016
GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts.
Zoppi N et al.
Human Molecular Genetics, 2015
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.
Callewaert BL et al.
Human Mutation, 2008
Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome.
Drera B et al.
American Journal of Medical Genetics. Part A, 2007
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