Associated Papers
Genetic variations in pseudoachondroplasia: a review of case reports.
Petryka L et al.
Laboratory Medicine, 2025
A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia.
Guo BB et al.
Biomed Research International, 2021
Exome sequencing revealed a p.G299R mutation in the COMP gene in an Iranian family suffering from pseudoachondroplasia.
Ansari H et al.
The Journal of Gene Medicine, 2019
A novel mutation in exon 11 of COMP gene in a Chinese family with pseudoachondroplasia.
Chen J et al.
Genes & Diseases, 2019
[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
COMP and Col9A3 mutations and their relationship to the pseudoachondroplasia phenotype.
Jung WW et al.
International Journal of Molecular Medicine, 2010
MED and PSACH COMP mutations affect chondrogenesis in chicken limb bud micromass cultures.
Roman-Blas J et al.
Journal of Cellular Physiology, 2010
The crystal structure of the signature domain of cartilage oligomeric matrix protein: implications for collagen, glycosaminoglycan and integrin binding.
Tan K et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2009
Mesomelic dwarfism in pseudoachondroplasia.
Song HR et al.
Journal of Pediatric Orthopedics. Part B, 2004
Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.
Song HR et al.
Journal of Human Genetics, 2003
Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.
Briggs MD et al.
Human Mutation, 2002
Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia.
Loughlin J et al.
Human Mutation, 1998
Recent advances in the genetics of disorders of calcium homeostasis.
Root AW
Advances in Pediatrics, 1996
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene.
Briggs MD et al.
Nature Genetics, 1995