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Cellular biology
Cellular structure and function
Cell membrane
Selective permeability of the cell membrane
Extracellular matrix
Cell-cell junctions
Endocytosis and exocytosis
Osmosis
Resting membrane potential
Nernst equation
Cytoskeleton and intracellular motility
Cell signaling pathways
Leukodystrophy
Adrenoleukodystrophy (NORD)
Zellweger spectrum disorders (NORD)
Primary ciliary dyskinesia
Alport syndrome
Ehlers-Danlos syndrome
Osteogenesis imperfecta
Marfan syndrome
Vitamin C deficiency
Peroxisomal disorders: Pathology review
Osteogenesis imperfecta
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osteogenesis imperfecta treatment p. 49
osteogenesis imperfecta p. 714
osteogenesis imperfecta p. 49
osteogenesis imperfecta and p. 49
osteogenesis imperfecta p. 49
osteogenesis imperfecta p. 49
bisphosphonates p. 499
collagen and p. 48
presentation p. 714
osteogenesis imperfecta p. 49
osteogenesis imperfecta p. 49
Osteogenesis imperfecta (OI) is a genetic bone disorder characterized by impaired production of type 1 collagen, an essential protein in the development and maintenance of bones and connective tissue. Collagen provides strength and support to the bones, and in individuals with OI, the collagen produced is weak, leading to bones that are brittle and prone to fractures.
OI may present with shorter height and neurological features, including communicating hydrocephalus, basilar invagination, seizures, blue sclerae, hearing loss, and other complications. Associated fractures may cause acute or chronic pain, reduced quality of life, and depression.
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