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Article

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

Pediatric radiology - 1 Mar 2025

Güneş Nilay, Alkaya Dilek Uludağ, Kurugoğlu Sebuh, Özyalvaç Nuri, Bursalı Ayşegül, Elçioğlu Nursel H, Tüysüz Beyhan

Abstract excerpt

BACKGROUND: Heterozygous TRPV4 mutations cause a group of skeletal dysplasias characterized by short stature, short trunk, and skeletal deformities. OBJECTIVE: The aim of this study is to compare the natural history of clinical and radiologic features of patients with different TRPV4-related skeletal dysplasias. MATERIALS AND METHODS: Thirteen patients with a mutation in TRPV4 were included in the study, and 11...

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Identifiers

PMID: 39825918
DOI: 10.1007/s00247-024-06145-7

Genes

TRPV4

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