Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene—Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias
Authors: Stembalska Agnieszka, Rydzanicz Małgorzata, Dudarewicz Lech, Pollak Agnieszka, Klaniewska Magdalena, Biela Mateusz, Stawinski Piotr, Ploski Rafal, Smigiel Robert
Published in: Genes
Publication type: article
Subject areas: Biochemistry, Genetics and Molecular Biology; Medicine
SJR best quartile: Q2