A de novo WBP11 Pathogenic Variant in a Fetus With Cystic Brain Malformation and Growth Restriction
Year: 2025
Type: article
Study design: Case Report
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.
Source: Prenatal Diagnosis
DOI: 10.1002/pd.70015
Authors: Gulvir Gill, Kelly O'Donovan, Dina Rubinfeld, Simon Meagher, Stacy Goergen, Lucy Hennington, Alison Fung, Lilian Downie
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W4415835997