Associated Papers
Genetic variations in pseudoachondroplasia: a review of case reports.
Petryka L et al.
Laboratory Medicine, 2025
Unveiling genetic insights: Array-CGH and WES discoveries in a cohort of 122 children with essential autism spectrum disorder.
Granata P et al.
Bmc Genomics, 2024
39654053 (PubMed )
Supplement: 12864_2024_11077_MOESM1_ESM.pdf
A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia.
Guo BB et al.
Biomed Research International, 2021
A novel mutation in exon 11 of COMP gene in a Chinese family with pseudoachondroplasia.
Chen J et al.
Genes & Diseases, 2019
Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias.
Briggs MD et al.
European Journal of Human Genetics : Ejhg, 2014
[Clinical features and COMP gene mutation in a family with a pseudoachondroplasia child].
Lu CT et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2013
A novel COMP mutation in a Chinese patient with pseudoachondroplasia.
Xie X et al.
Gene, 2013
A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia.
Piróg KA et al.
Human Molecular Genetics, 2010
Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3.
Cotterill SL et al.
Human Mutation, 2005
Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.
Briggs MD et al.
Human Mutation, 2002
Cartilage oligomeric matrix protein interacts with type IX collagen, and disruptions to these interactions identify a pathogenetic mechanism in a bone dysplasia family.
Holden P et al.
The Journal of Biological Chemistry, 2001
Molecular diagnosis is important to confirm suspected pseudoachondroplasia.
Newman B et al.
Journal of Medical Genetics, 2000
Review: clinical variability and genetic heterogeneity in multiple epiphyseal dysplasia.
Chapman KL et al.
Pediatric Pathology & Molecular Medicine, 0
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