R. Warburton

Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility

N. Burrows, M. Whiteford, D. Baker, 2019, Genetics in Medicine.

Causes of progressive cerebellar ataxia: prospective evaluation of 1500 patients

D. Sanders, Juliet M. Taylor, R. Grünewald, 2016, Journal of Neurology, Neurosurgery & Psychiatry.

Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility

N. Burrows, M. Whiteford, D. Baker, 2019, Genetics in Medicine.