Prenatal Variable Expressivity of a Maternal FGFR1 Truncating Variant in Consecutive Pregnancies: A Dual‐Generation Case Report
Abstract
Summary What's already known about this topic? What does this study add?
Fields of Study & Subjects
Genomics and Rare Diseases
Prenatal Screening and Diagnostics
Congenital limb and hand anomalies
Publication details
- Journal / source
- Prenatal Diagnosis
- Volume
- 46
- Issue
- 4
- Pages
- 593–597
- Publication date
- 12 March 2026
- Language
- EN