Código QR (código de barras bidimensional)

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...

ver descrição completa

Na minha lista:
Principais autores: Han Wang, Shuang Li, Yiming Xu, Bin Feng, Xiuli Zhao, Xisheng Weng
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2025-11-01
coleção:Orphanet Journal of Rare Diseases
Assuntos:
Spondylometaphyseal dysplasia
TRPV4
Bioinformatics analysis
Electrophysiology
Acesso em linha:https://doi.org/10.1186/s13023-025-04070-y
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registros relacionados