Publications

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2020
Boyden, L. M. et al. Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis. Am J Hum Genet 107, 158-163 (2020).
2019
Duchatelet, S. et al. Mutations in PERP Cause Dominant and Recessive Keratoderma. J Invest Dermatol 139, 380-390 (2019).
2017
Boyden, L. M. et al. Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma. Am J Hum Genet 100, 978-984 (2017).