Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta.
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P. Byers | D. Eyre | U. Schwarze | M. Pepin | A. Alswaid | Shawna M. Pyott | M. Weis | H. Christiansen | M. A. Al Balwi | Shatha Alrasheed | S. Alrasheed