Osteogenesis Imperfecta with Pes Equinovarus: A Rare Combination and a Rare Col1a1 Variant
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Variants in the Col1a1 gene typically lead to a connective tissue disorder called osteogenesis imperfecta (OI), which is characterized by increased bone fragility that may be associated with blue sclera, dentinogenesis imperfecta and hearing loss. However, the... ...
