Associated Papers
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: 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
Ophthalmic findings in patients with arterial tortuosity syndrome and carriers: A case series.
Hardin JS et al.
Ophthalmic Genetics, 0
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