Clinical, Biochemical, Radiological, Genetic and Therapeutic Analysis of Patients with COMP Gene Variants.
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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… read more here.
Keywords: psach patients; serum comp; patients comp; radiology ... See more keywords