De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome
Authors Ufartes R, Berger H, Till K, Salinas G, Sturm M, Altmuller J, Nurnberg P, Thiele H, Funke R, Apeshiotis N, Langen H, Wollnik B, Borchers A, Pauli S Journal Human Genetics Citation Hum Genet. Online ahead of print Abstract We report truncating de novo variants in specific exons of


