A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.
Prenatal Diagnosis
Corsten-Janssen, Nicole N; Bouman, Katelijne K; Diphoorn, Janouk C D JCD; Scheper, Arjen J AJ; Kinds, Rianne R; El Mecky, Julia J; Breet, Hanna H; Verheij, Joke B G M JBGM; Suijkerbuijk, Ron R; Duin, Leonie K LK; Manten, Gwendolyn T R GTR; van Langen, Irene M IM; Sijmons, Rolf H RH; Sikkema-Raddatz, Birgit B; Westers, Helga H; van Diemen, Cleo C CC
Publication Date: 2020-09
Variant appearance in text: KMT2D: 696dupT; Glu233*