Case report
Open access
Aug 2026
The first report of hypohidrotic ectodermal dysplasia caused by a novel mutation and accompanied with pathological femoral neck fracture
This case expands the mutational and phenotypic spectrum of TP63-associated HED by describing a previously unreported mutation presenting with a pathological femoral neck fracture and end-stage renal disease.
Guang-Hua Liang, Xiang-Ning Meng, Talante Juma et al.
· Medicine · 0 citations