Associated Papers
Recognizing multiple epiphyseal dysplasia in children presenting with joint pain: a commonly overlooked skeletal dysplasia.
Daşar T et al.
European Journal of Pediatrics, 2025
A taxonomic schema of potential pitfalls in clinical variant analysis based on real-world evidence.
Coovadia A et al.
Plos One, 2023
38032981 (PubMed )
Supplement: pone.0295010.s001.doc
A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia.
Guo BB et al.
Biomed Research International, 2021
Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.
Briggs MD et al.
Human Mutation, 2002
Review: clinical variability and genetic heterogeneity in multiple epiphyseal dysplasia.
Chapman KL et al.
Pediatric Pathology & Molecular Medicine, 0
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