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Alexandra Liebmann

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Open access Aug 2026

Prenatal Phenotypic Features of Five Fetal Cases With RNU4ATAC‐Associated Microcephalic Osteodysplastic Primordial Dwarfism Type I

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).

Alexandra Liebmann, Tanja Richter, N. Krstić et al. · Prenatal Diagnosis · 0 citations