Clinical, Molecular Characteristics, and Genotype-Phenotype Relationships of Metaphyseal Chondrodysplasia Type Schmid
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Metaphyseal chondrodysplasia type Schmid (MCDS), a rare skeletal disorder caused by COL10A1 mutations, exhibits significant phenotypic heterogeneity, yet genotype-phenotype correlations remain poorly defined. We aim to determine the clinical and radiographic m... ...
