Article
CUL3-Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype.
Prenatal diagnosis - 1 Jun 2026
Gofin Yoel, Dery Tania, Tenne Tamar, Yaacobi Racheli Goldfarb, Block Emilie, Kalis Marina Lifshitc, Mor-Shaked Hagar, Douiev-Charpak Liza, Birnbaum Rivka, Shohat Mordechai, Markovich Ofer, Kidron Debora, Sukenik-Halevy Rivka
Abstract excerpt
OBJECTIVE: Pathogenic variants of the CUL3 gene are known to cause a neurodevelopmental disorder with a partially described prenatal phenotype. This study further characterizes and expands the spectrum of prenatal sonographic findings associated with the disorder to improve prenatal diagnosis and counseling. METHODS: This multi-center case series adds seven new cases from 5 pedigrees with pathogenic CUL3 variants...
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