Associated Papers
Genetic variations in pseudoachondroplasia: a review of case reports.
Petryka L et al.
Laboratory Medicine, 2025
Recurrent Mutation (p.Arg718Pro) in the COMP Gene with Clinical Heterogeneity of Pseudoachondroplasia.
Toral López J et al.
Molecular Syndromology, 2023
A novel mutation in exon 11 of COMP gene in a Chinese family with pseudoachondroplasia.
Chen J et al.
Genes & Diseases, 2019
Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.
Nair P et al.
Molecular Genetics & Genomic Medicine, 2018
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
Compound heterozygosity of SHOX-encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD).
Campos-Barros A et al.
American Journal of Medical Genetics. Part A, 2007
Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia -- multiple epiphyseal dysplasia disease group.
Kennedy J et al.
Human Mutation, 2005
Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations.
Mabuchi A et al.
American Journal of Medical Genetics. Part A, 2004
Structure of a thrombospondin C-terminal fragment reveals a novel calcium core in the type 3 repeats.
Kvansakul M et al.
The Embo Journal, 2004
Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia.
Mabuchi A et al.
Human Genetics, 2003
Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia.
Mabuchi A et al.
American Journal of Medical Genetics, 2001
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