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Filters: Keyword is Exome and Author is Penney, Samantha [Clear All Filters]
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. Am J Hum Genet. 2015 ;96(4):612-22..
Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population. Eur J Hum Genet. 2015 ;23(3):342-6..