Associated Papers
The Broad Clinical Spectrum of Metatropic Dysplasia: A Case Series and Literature Review.
Robles-Espinoza K et al.
International Journal of Molecular Sciences, 2025
The impact of TRPV4 pathogenic mutations on barrier integrity.
Sampaio G et al.
Human Molecular Genetics, 2025
Roles for TRPV4 in disease: A discussion of possible mechanisms.
Hernández-Vega AM et al.
Cell Calcium, 2024
In silico analysis of TRPM4 variants of unknown clinical significance.
Tarnovskaya SI et al.
Plos One, 2023
38100498 (PubMed )
Supplement: pone.0295974.s001.xlsx › Table_S1_Broad_Dataset_ST
Novel TRPV4 variant causes a severe form of metatropic dysplasia.
Graversen L et al.
Clinical Case Reports, 2018
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