Associated Papers
Identification of a Novel De Novo COMP Gene Variant as a Likely Cause of Pseudoachondroplasia.
Tuncel G et al.
Applied Immunohistochemistry & Molecular Morphology : Aimm, 2021
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 five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia.
Loughlin J et al.
Human Mutation, 1998
Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia.
Hecht JT et al.
Nature Genetics, 1995
Select a paper to view details