Associated Papers
Arterial Tortuosity Syndrome in a Newborn: A Case Report With Literature Review.
Al-Blushi S et al.
Cureus, 2022
Two fetuses in one family of arterial tortuosity syndrome: prenatal ultrasound diagnosis.
Liang M et al.
Bmc Pregnancy and Childbirth, 2021
Decreased Nuclear Ascorbate Accumulation Accompanied with Altered Genomic Methylation Pattern in Fibroblasts from Arterial Tortuosity Syndrome Patients.
Németh CE et al.
Oxidative Medicine and Cellular Longevity, 2019
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
Clinical utility gene card for: Arterial tortuosity syndrome.
Albuisson J et al.
European Journal of Human Genetics : Ejhg, 2015
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.
Colombi M et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2015
Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene.
Castori M et al.
American Journal of Medical Genetics. Part A, 2012
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