Associated Papers
Clinical, Molecular Characteristics, and Genotype-Phenotype Relationships of Metaphyseal Chondrodysplasia Type Schmid.
Meng L et al.
Calcified Tissue International, 2025
Characterization of a novel COL10A1 variant associated with Schmid-type metaphyseal chondrodysplasia and a literature review.
Wu H et al.
Molecular Genetics & Genomic Medicine, 2021
Early-onset metaphyseal chondrodysplasia type Schmid associated with a COL10A1 frame-shift mutation and impaired trimerization of wild-type α1(X) protein chains.
Mäkitie O et al.
Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society, 2010
Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients.
Mäkitie O et al.
American Journal of Medical Genetics. Part A, 2005
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