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Published in 2021 at "Calcified tissue international"
DOI: 10.1007/s00223-021-00920-6
Abstract: Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia type 1 (MED1) are two rare skeletal disorders caused by cartilage oligomeric matrix protein (COMP) variants. This study aims to analyze the genotype and phenotype of patients with COMP…
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Keywords:
psach patients;
serum comp;
patients comp;
radiology ... See more keywords