Esophageal Atresia, an Anomaly of VACTERL Association or Novel Feature of the FGF10 Gene: A Case Report
This report supports the involvement of the <i>FGF10</i> gene in EA and PH, and expands the phenotypic spectrum of pathogenic <i>FGF10</i> variants. We hypothesize that while <i>FGF10</i> contributes to the development of PH or VACTERL association (VA), a yet unidentified second hit is likely necessary.
Authors
- Elena García‐Payá (ORCID: https://orcid.org/0000-0003-0032-0197)
- Mercedes Navarro-de-Miguel (ORCID: https://orcid.org/0000-0003-3792-7363)
- Rosario Sánchez Martínez (ORCID: https://orcid.org/0000-0001-6902-8325)
- Paula Sirera Sirera
- V. Re (ORCID: https://orcid.org/0000-0003-0697-3420)
- Miriam Escalante-Reyes
Institutions
- Universitat de Miguel Hernández d'Elx (ES)
- Hospital General Universitario de Alicante Doctor Balmis (ES)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2025-10-27
- DOI
- https://doi.org/10.1159/000549201
- Primary Topic
- Esophageal and GI Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.00