Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
A novel mutation in the proteoglycan 4 gene causing CACP syndrome: two sisters report.
Bağrul İ et al.
Pediatric Rheumatology Online Journal, 2023
Pseudo-rheumatic manifestations of limping: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome: Single case report and review of the literature.
Maniscalco V et al.
Frontiers in Pediatrics, 2022
Syndrome of progressive deforming non-inflammatory arthritis of childhood: two patients of camptodactyly-arthropathy-coxa vara-pericarditis syndrome.
Johnson N et al.
Rheumatology International, 2021
The genomic landscape of pediatric rheumatology disorders in the Middle East.
Fathalla BM et al.
Human Mutation, 2021
Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.
Yilmaz S et al.
Molecular Genetics & Genomic Medicine, 2018
A novel mutation in PRG4 gene underlying camptodactyly-arthropathy-coxa vara-pericarditis syndrome with the possible expansion of the phenotype to include congenital cataract.
Akawi NA et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2012
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