A novel TRPV4 variant in spondylometaphyseal dysplasia, kozlowski type reveals a previously unreported loss-of-function mechanism

Abstract Spondylometaphyseal Dysplasia, Kozlowski Type (SMDK) is an autosomal dominant skeletal disorder characterized by marked scoliosis, platyspondyly, overfaced pedicles, and mild metaphyseal changes. Pathogenic variants in TRPV4, which encodes a calcium-permeable nonselective cation channel, ar...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Han Wang, Shuang Li, Yiming Xu, Bin Feng, Xiuli Zhao, Xisheng Weng
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMC 2025-11-01
Cyfres:Orphanet Journal of Rare Diseases
Pynciau:
Spondylometaphyseal dysplasia
TRPV4
Bioinformatics analysis
Electrophysiology
Mynediad Ar-lein:https://doi.org/10.1186/s13023-025-04070-y
Tagiau: Ychwanegu Tag
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