Associated Papers
Severe cases of osteogenesis imperfecta type VIII due to a homozygous mutation in P3H1 (LEPRE1) and review of the literature.
Bala MM et al.
Advances in Clinical and Experimental Medicine : Official Organ Wroclaw Medical University, 2021
Osteogenesis imperfecta caused by COL1A1, CRTAP and LEPRE1 mutations. Report of 2cases.
Caudevilla Lafuente P et al.
Medicina Clinica, 2019
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