<i>FGFR1</i> Tyrosine Kinase Domain Variant p. <scp>Val561Met</scp> in Caudal Dysraphism: A Case Report
This single case raises the possibility that altered FGFR1 signaling may contribute to defective neurulation and warrants further investigation in larger cohorts. Our findings support considering FGFR1 in the differential diagnosis of complex or syndromic spinal dysraphism, though additional evidence is required before recommending its inclusion in routine panels for isolated cases.
Authors
- Hannah Klucknow
- Sheridan O’Donnell
- Victoria Yachmenikova
- Himanshu Goel (ORCID: https://orcid.org/0000-0001-6448-6618)
- Tanya Mckenny
Institutions
- John Hunter Hospital (AU)
- Hunter Genetics (AU)
- University of Newcastle Australia (AU)
Publication Details
- Journal
- Birth Defects Research
- Published
- 2025-11-01
- DOI
- https://doi.org/10.1002/bdr2.70000
- Primary Topic
- Spinal Dysraphism and Malformations
- Type
- article
- Field-Weighted Citation Impact
- 0.00