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Investigative Ophthalmology & Visual Science|February 22, 2020
A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary CiliumCathrine Jespersgaard, Amalie Brunbjerg Hey, Tomas Ilginis, et al.American Journal of Medical Genetics. Part A|March 19, 2008
Clinical genetics and the Hutterite population: a review of Mendelian disordersKym M Boycott, Jillian S Parboosingh, Bernie N Chodirker, et al.American Journal of Human Genetics|January 17, 2012
Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasminPeter Huppke, Cornelia Brendel, Vera Kalscheuer, et al.Pageof 7