Associated Papers
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
Allelic background of LEPRE1 mutations that cause recessive forms of osteogenesis imperfecta in different populations.
Pepin MG et al.
Molecular Genetics & Genomic Medicine, 2013
Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.
Marini JC et al.
Cell and Tissue Research, 2010
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.
Baldridge D et al.
Human Mutation, 2008
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta.
Cabral WA et al.
Nature Genetics, 2007
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