Work

Spondyloepimetaphyseal dysplasia-Maroteaux type due to dominant TRPV4 mutation: expanding the phenotype with a case report

Year: 2022

Type: article

Study design: Case Report

Source: Skeletal Radiology

DOI: 10.1007/s00256-022-04105-6

Authors: Ceren Yılmaz Uzman, Tufan Çankaya, Handan Güleryüz, Ayfer Ülgenalp, Özlem Giray Bozkaya

Institution: Dokuz Eylül University

Language: English

Topic: Connective tissue disorders research

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4283763918

FWCI: 0.245

Cites: 11

Cited by: 4

Related to: 10