<i>GATA4</i> gene variants in 46,XY differences of sex development: report of four cases and literature review
<i>GATA4</i> should be included in genetic panels for 46,XY DSD. Our work expand the clinical and molecular spectrum of <i>GATA</i> <i>4</i>-associated 46,XY DSD and our review support the relevance of zinc finger domain variants in gonadal development. Phenotypic variability among carriers supports variable expressivity and incomplete penetrance.
Authors
- Mercè Borràs (ORCID: https://orcid.org/0000-0002-7498-4773)
- Sara León Cariñena (ORCID: https://orcid.org/0000-0001-8424-064X)
- Teresa Jaijo Sanchís
- Cristina Pellicer Viudes
- Carmen De Mingo Alemany
- Francisca Moreno Macián
Institutions
- Hospital Universitari i Politècnic La Fe (ES)
Publication Details
- Journal
- Journal of Pediatric Endocrinology and Metabolism
- Published
- 2026-03-15
- DOI
- https://doi.org/10.1515/jpem-2025-0612
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 0.00