16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension?
Article in Genes (August 2023)
The most recent citing publications are shown below. View all 13 publications that cite this research output on Dimensions.
Case Report: Prenatal Whole-Exome Sequencing Identified a Novel Nonsense Mutation of the KCNH2 Gene in a Fetus With Familial 2q14.2 Duplication
Article in Frontiers in Genetics (July 2022)
Cohen syndrome due to a novel VPS13B mutation in a Chinese family
Article in Journal of Neurorestoratology (June 2022)