Comparison of the natural course of clinical and radiologic features in 13 patients with TRPV4-related skeletal dysplasias

N Güneş, DU Alkaya, S Kurugoğlu, N Özyalvaç… - Pediatric …, 2025 - Springer
Background Heterozygous TRPV4 mutations cause a group of skeletal dysplasias
characterized by short stature, short trunk, and skeletal deformities. Objective The aim of this …