Article

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

2024-08-23

Abstract excerpt

<title>Abstract</title> <p>Background Heterozygous <italic>TRPV4</italic> mutations cause a group of skeletal dysplasias characterized by short stature, short trunk, and spinal deformities. Objective The aim of this study is to compare the natural history of clinical and radiologic features of patients with different <italic>TRPV4</italic>-related skeletal dysplasias. Material and methods Thirteen patients wit...

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Literature Corpus work: c10987a1-ccb2-5183-a0b2-cbc745ce9294
DOI: 10.21203/rs.3.rs-4843530/v1

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