Associated Papers
Genetic variations in pseudoachondroplasia: a review of case reports.
Petryka L et al.
Laboratory Medicine, 2025
Co-occurrence of neurofibromatosis type 1 and pseudoachondroplasia - a first case report.
Pálla S et al.
Bmc Pediatrics, 2023
Case Report: Whole-exome sequencing identified two novel COMP variants causing pseudoachondroplasia.
Zhou L et al.
Frontiers in Endocrinology, 2023
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
Identification of novel and recurrent mutations in the calcium binding type III repeats of cartilage oligomeric matrix protein in patients with pseudoachondroplasia.
Cao LH et al.
Genetics and Molecular Research : Gmr, 2011
Mutations targeting intermodular interfaces or calcium binding destabilize the thrombospondin-2 signature domain.
Carlson CB et al.
The Journal of Biological Chemistry, 2008
Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.
Briggs MD et al.
Human Mutation, 2002
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