Associated Papers
Milder presentation of osteogenesis imperfecta type VIII due to compound heterozygosity for a predicted loss-of-function variant and novel missense variant in P3H1-further expansion of the phenotypic spectrum.
Mikhail KA et al.
Cold Spring Harbor Molecular Case Studies, 2023
A moderate form of osteogenesis imperfecta caused by compound heterozygous LEPRE1 mutations.
Santana A et al.
Bone Reports, 2018
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