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
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
Genotypic and Phenotypic Characteristics of 29 Patients With Rare Types of Osteogenesis Imperfecta: Average 5 Years of Follow-Up.
Xi L et al.
Frontiers in Genetics, 2021
A moderate form of osteogenesis imperfecta caused by compound heterozygous LEPRE1 mutations.
Santana A et al.
Bone Reports, 2018
Targeted exome sequencing identifies novel compound heterozygous mutations in P3H1 in a fetus with osteogenesis imperfecta type VIII.
Huang Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017
Allelic background of LEPRE1 mutations that cause recessive forms of osteogenesis imperfecta in different populations.
Pepin MG et al.
Molecular Genetics & Genomic Medicine, 2013
The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta.
Zhang ZL et al.
Journal of Bone and Mineral Metabolism, 2012
A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta.
Takagi M et al.
Plos One, 2012
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