A progeroid syndrome with severe osteogenesis imperfecta segregates with an intronic TAPT1 homozygous variant that creates a knockout allele

2024-12-2920231018-4813https://hdl.handle.net/20.500.14288/22321MedicineA progeroid syndrome with severe osteogenesis imperfecta segregates with an intronic TAPT1 homozygous variant that creates a knockout alleleMeeting abstract1476-54381050507001328Q240445