Associated Papers
[Analysis of genetic variants and molecular pathogenesis in a Chinese pedigree affected with Multiple epiphyseal dysplasia].
Li S et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024
Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis.
Li S et al.
Orphanet Journal of Rare Diseases, 2024
38956600 (PubMed )
Supplement: 13023_2024_3228_MOESM6_ESM.xlsx › Sheet1
SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation.
Silveira C et al.
Molecular Syndromology, 2023
Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene.
Cho TJ et al.
Journal of Korean Medical Science, 2010
Select a paper to view details