Article
DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.
American journal of human genetics - 3 Mar 2016
White Janson J, Mazzeu Juliana F, Hoischen Alexander, Bayram Yavuz, Withers Marjorie, Gezdirici Alper, Kimonis Virginia, Steehouwer Marloes, Jhangiani Shalini N, Muzny Donna M, Gibbs Richard A, van Bon Bregje W M, Sutton V Reid, Lupski James R, Brunner Han G, Carvalho Claudia M B
Abstract excerpt
Robinow syndrome is a rare congenital disorder characterized by mesomelic limb shortening, genital hypoplasia, and distinctive facial features. Recent reports have identified, in individuals with dominant Robinow syndrome, a specific type of variant characterized by being uniformly located in the penultimate exon of DVL1 and resulting in a -1 frameshift allele with a premature termination codon that escapes...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.