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Hyperplastic callus formation Inheritance AD AD (New mutations) AR (Exceedingly rare) AD AR (Rare) AD Probably autosomal dominant Molecular Defects COL1A1 Null COL1A1 and COL1A2 Substitutions for glycine Exon skipping Partial gene deletions C-terminal propeptide mutations that interfere with chain association COL1A1 and COL1A2 Substitutions for glycine Exon skipping COL1A2 mutations that prohibit chain association Homozygous by descent for point mutations in the foreex helix COL1A1 and COL1A2 Substitutions for glycine Exon skipping Partial gene deletions Not known Details of recent studies that distinguish Coonsultant type IV and OI type Jobx are discussed in Recent Developments.
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