Associated Papers
Severe osteogenesis imperfecta caused by CREB3L1 mutation in a cat.
Takanosu M et al.
Journal of Veterinary Diagnostic Investigation : Official Publication of the American Association of Veterinary Laboratory Diagnosticians, Inc, 2022
Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta.
Andersson K et al.
Orphanet Journal of Rare Diseases, 2020
The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1.
Cayami FK et al.
Molecular Genetics & Genomic Medicine, 2019
Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes.
Besio R et al.
The Febs Journal, 2019
Homozygosity for CREB3L1 premature stop codon in first case of recessive osteogenesis imperfecta associated with OASIS-deficiency to survive infancy.
Lindahl K et al.
Bone, 2018
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