Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy –Walker malformation

ConclusionsThe present case confirmed WES as a reliable tool for the prenatal identification of the molecular bases of early ‐detected CNS malformations.

Source: Molecular Genetics & Genomic Medicine - November 21, 2019 Category: Genetics & Stem Cells Authors: Alice Traversa, Silvia Bernardo, Alessandro Paiardini, Agnese Giovannetti, Enrica Marchionni, Maria Luce Genovesi, Daniele Guadagnolo, Barbara Torres, Stefano Paolacci, Laura Bernardini, Tommaso Mazza, Massimo Carella, Viviana Caputo, Antonio Tags: CLINICAL REPORT Source Type: research