Key result
Two novel SLC2A10/GLUT10 mutations were molecularly characterized in an Italian patient with arterial tortuosity syndrome born to nonconsanguineous unaffected parents.
Identifies two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome.
Novel SLC2A10 variants may aid ATS diagnosis; leaves open functional validation and broader genotype-phenotype links.
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Drera et al. (2006) studied this question. Two novel SLC2A10/GLUT10 mutations were molecularly characterized in an Italian patient with arterial tortuosity syndrome born to nonconsanguineous unaffected parents.
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