Prenatal diagnosisHumansFemalePregnancyFetal Growth RetardationAdult
A de novo WBP11 Pathogenic Variant in a Fetus With Cystic Brain Malformation and Growth Restriction.
Gulvir Gill, Kelly O'Donovan, Dina Rubinfeld, Simon Meagher, Stacy Goergen, Lucy Hennington, Alison Fung, Lilian Downie
Published: 202510.1002/pd.70015
Abstract
We report the first prenatal diagnosis of a de novo WBP11 variant in a fetus with growth restriction and structural brain anomalies. The case highlights the challenges of counselling with a new and evolving gene-disease association.