Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations

M Lefebvre, AL Bruel, E Tisserant, N Bourgon… - Journal of medical …, 2021 - jmg.bmj.com
Purpose Molecular diagnosis based on singleton exome sequencing (sES) is particularly
challenging in fetuses with multiple congenital abnormalities (MCA). Indeed, some studies …