Associated Papers
Clinical, Molecular Characteristics, and Genotype-Phenotype Relationships of Metaphyseal Chondrodysplasia Type Schmid.
Meng L et al.
Calcified Tissue International, 2025
41454937 (PubMed )
Supplement: 223_2025_1457_MOESM2_ESM.xlsx › References
The p.W651fsX666 mutation on COL10A1 results in impaired trimerization of normal collagen X to induce Schmid type Metaphyseal chondrodysplasia.
Yang J et al.
Human Molecular Genetics, 2025
Identification of a novel COL10A1: c.1952 G>T variant in a family with Schmid metaphyseal chondrodysplasia and development of a noninvasive prenatal testing method.
Ye Y et al.
Molecular Genetics & Genomic Medicine, 2021
Select a paper to view details