Interplay Between Fibroblast Growth Factor 9 and CD44 Underlies 46,XY Disorders of Sex Development in Kruppel-Like Factor 1 E325K-Associated Congenital Dyserythropoietic Anemia
September 2026
in “
British Journal of Haematology
”
Studysummary This study found that the KLF1 E325K mutation in children with congenital dyserythropoietic anemia may lead to male sexual differentiation issues, including 46,XY complete sex reversal, possibly due to combined genetic factors affecting FGF9 expression.
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