J. Scott

Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis.

R. Lifton, A. Paller, K. Choate, 2020, American journal of human genetics.

A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3

J. Hughes, J. Seidman, C. Seidman, 1994, Nature Genetics.

Inherited diseases of the vasculature.

C. Shovlin, J. Scott, Claire L. Shovlin, 1996, Annual review of physiology.

Retina RDH 12 Mutations Cause a Severe Retinal Degeneration With Relatively Spared Rod Function

Denise J. Pearson, T. Aleman, J. Bennett, 2018 .

Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia.

J. Hughes, J. Seidman, C. Seidman, 1997, American journal of human genetics.