Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH.
Scott TM, Campbell IM, Hernandez-Garcia A, Lalani SR, Liu P, Shaw CA, Rosenfeld JA, Scott DA.
J Med Genet. 2021 Jan 18:jmedgenet-2020-107317. doi: 10.1136/jmedgenet-2020-107317. Epub ahead of print.