Erratum: Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP [PDF]
, 2001 openalex +1 more source
Osteogenesis imperfecta, a case report
Universidad Médica Pinareña, 2020 Introduction: osteogenesis imperfecta or crystal bones constitute the hereditary osteoporotic syndrome with the highest incidence in childhood. Case report: a 6-year and three-month-old school student admitted to the pediatric intensive care unit with a
Lázaro Raidel Moreira-Díaz +2 more
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Esthetic Reconstruction of Teeth in Patient with Dentinogenesis Imperfecta – A Case Report [PDF]
, 2006 Dentinogenesis imperfecta (DI) is the result of a dominant genetic defect and affects both the deciduous and permanent dentitions. It is characterized by opalescent teeth composed of irregularly formed and undemineralized dentin which obliterates pulp ...
Alena Knežević +2 more
core +1 more source
Genes and Diseases, 2019 Osteogenesis imperfecta (OI) is mainly characterized by bone fragility and Ehlers-Danlos syndrome (EDS) by connective tissue defects. Mutations in COL1A1 or COL1A2 can lead to both syndromes.
Thunyaporn Budsamongkol +5 more
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Dental Findings and Treatment in Osteogenesis Imperfecta: A Case Report
Selcuk Dental JournalOsteogenesis imperfecta (OI) is a genetically inherited disease in which increased bone fragility, low bone mass, and connective tissue disorders are seen. In other words, 'glass bone disease'; has been associated with blue sclera, hearing problems, hand-
Yasemin İspir, Özge Anıl
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Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II [PDF]
, 2004 Jung‐Wook Kim +9 more
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Dentin phosphoprotein compound mutation in dentin sialophosphoprotein causes dentinogenesis imperfecta type III [PDF]
, 2004 Juan Dong +3 more
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Immunolocalization of gene products responsible for Amelogenesis Imperfecta and Dentinogenesis Imperfecta in mice [PDF]
, 2016 Healthy tooth formation is crucially dependent on normal development of enamel and dentin. Any deviation from norm could lead to serious effects on the teeth function.
Alkhouly, Waddah Mohammed
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Rough endoplasmic reticulum trafficking errors by different classes of mutant dentin sialophosphoprotein (DSPP) cause dominant negative effects in both dentinogenesis imperfecta and dentin dysplasia by entrapping normal DSPP [PDF]
, 2012 Zofia von Marschall +4 more
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ADSPPMutation Causing Dentinogenesis Imperfecta and Characterization of the Mutational Effect [PDF]
, 2012 Sook-Kyung Lee +5 more
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