Associated Papers
Molecular spectrum of autosomal recessive osteogenesis imperfecta in 93 Italian children with bone fragility: a monocentric experience.
Guarnieri V et al.
Journal of Endocrinological Investigation, 2026
Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.
Senturk L et al.
Fetal Diagnosis and Therapy, 2024
Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, Turkey.
Kalayci T et al.
American Journal of Medical Genetics. Part A, 2023
Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive P3H1 Pathogenic Variant.
Zhytnik L et al.
Genes, 2022
35327962 (PubMed )
Supplement: genes-13-00407-s001.zip › genes-1583282-supplementary.pdf
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
Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.
Marini JC et al.
Cell and Tissue Research, 2010
Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation.
Willaert A et al.
Journal of Medical Genetics, 2009
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