An anadysplasia‐like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: Further definition of the phenotypic heterogeneity of LBR‐bone dysplasias. (27th October 2014) - Sobreira, Nara
Abstract We describe a boy who has an anadysplasia‐like spondylometaphyseal dysplasia. By whole exome sequencing he was shown to have compound heterozygous mutations of LBR that codes for the lamin B receptor. He shares many similarities with a case previously described, but in whom the early natural history could not be established [Borovik et al., 2013]. Thus, in addition to Greenberg dysplasia (a perinatal lethal disorder), homozygosity or compound heterozygosity of mutations in LBR can result in a mild, spontaneously regressing bone dysplasia. © 2014 Wiley Periodicals, Inc.