Open access
Prenatal Phenotypic Features of Five Fetal Cases With RNU4ATAC‐Associated Microcephalic Osteodysplastic Primordial Dwarfism Type I
Alexandra Liebmann
Tanja Richter
N. Krstić
M. Hoopmann
K. Kagan
Lena-Sophie Menig-Benzig
S. Olivieri
O. Riess
A. Dufke
Medicine
Abstract
To present the prenatal sonographic features, genomic findings, and pregnancy outcomes of fetuses with biallelic pathogenic RNU4ATAC variants linked to microcephalic osteodysplastic primordial dwarfism type I (MOPD1).