The basic defect responsible for osteogenesis imperfecta is produced by various mutations affecting the genes that encode type I collagen, resulting in

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The basic defect responsible for osteogenesis imperfecta is produced by various mutations affecting the genes that encode type I collagen, resulting in abnormally formed bones that fracture easily. Mandibulofacial dysostosis is associated with lack of otic ossicles. Cleidocranial dysplasia is associated with unilateral or bilateral aplasia or hypoplasia of clavicles. Torus palatinus is associated with a bony overgrowth at the midline of the hard palate.

The Basic Defect Responsible for Osteogenesis Imperfecta Is Produced by Various