Publications
Phenotypic expansion of POFUT1 loss of function mutations in a disorder featuring segmental dyspigmentation with eczematous and folliculo-centric lesions. Am J Med Genet A 179, 2469-2473 (2019).
Post-zygotic ACTB mutations underlie congenital smooth muscle hamartomas. J Cutan Pathol 47, 681-685 (2020).
Topical cholesterol/lovastatin for the treatment of porokeratosis: A pathogenesis-directed therapy. J Am Acad Dermatol 82, 123-131 (2020).
Two percent lovastatin ointment as a pathogenesis-directed monotherapy for porokeratosis. JAAD Case Rep 6, 1110-1112 (2020).