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
A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta.
Guillemyn B et al.
Human Molecular Genetics, 2019
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