A novel mutation in the proteoglycan 4 gene causing CACP syndrome: two sisters report
Abstract Background Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome, caused by biallelic pathogenic mutations in the proteoglycan 4 (PRG4) gene, is characterized by early-onset camptodactyly, noninflammatory arthropathy, coxa vara deformity, and rarely, pericardial effusion. This sy...
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| Main Authors: | , , , , , , , |
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| Format: | Book |
| Published: |
BMC,
2023-01-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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