Articles with "type xii" as a keyword



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Dental phenotype in an adolescent with osteogenesis imperfecta type XII

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Published in 2022 at "BMJ Case Reports"

DOI: 10.1136/bcr-2021-246554

Abstract: Mutation in SP7, encoding the osteoblast-specific transcription factor SP7 (also known as osterix), has been described to cause osteogenesis imperfecta (OI) type XII. However, the exact dental phenotype has not been well described. We report… read more here.

Keywords: type xii; xii; imperfecta type; dental phenotype ... See more keywords
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Collagen type XII is undetectable in keratoconus Bowman’s layer

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Published in 2023 at "British Journal of Ophthalmology"

DOI: 10.1136/bjo-2022-322180

Abstract: Purpose Corneal biomechanical failure is the hallmark of keratoconus (KC); however, the cause of this failure remains elusive. Collagen type XII (COL12A1), which localises to Bowman’s layer (BL), is thought to function in stress-bearing areas,… read more here.

Keywords: type xii; collagen type; col12a1; keratoconus ... See more keywords