Case report identifies a complex COL1A2 deletion in osteogenesis imperfecta, suggesting implications for genetic counseling.
N-terminal in-frame COL1A2 deletions show variable expressivity, including perinatal lethality. We report a novel, complex and likely unstable genomic rearrangement which probably predisposed to a secondary, larger deletion. Integrated CNV analysis and parental studies are crucial to ensure accurate recurrence risk counselling.
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Oliveira et al. (2026) studied this question.
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