This Review addresses this distinct patient group by recognizing the diverse facets of clinical burden, genetic landscape, bone pathophysiology, disease models and emerging treatment options by defining knowledge gaps that future investigations of this disease should aim to address.
The typical clinical symptoms, skeletal imaging features, and genetic test results of this patient ultimately confirmed the diagnosis of osteogenesis imperfecta and a multidisciplinary comprehensive individualized treatment plan was formulated and implemented for the patient, effectively alleviating clinical symptoms a...
Yifei Ma, Ya-Nan Li, Ruolin Lv et al.· International Journal of Cli...· 0 citations
Evaluating critically how historical nosology, molecular pathology and emerging gene-directed interventions relate to one another is evaluated, and to determine which conclusions the accessible evidence can currently sustain are evaluated.
S. Bittmann, E. Luchter, E. Moschüring-Alieva· Journal of Advances in Medic...· 0 citations
A patient with clinical skeletal features of MCTO who was found to have a novel missense variant in the MAFB gene, in a region where other pathogenic mutations have been described, is presented.
S. Haroon, Joseph L.Shaker· Archives of Osteoporosis· 0 citations
Osteopetrorickets is a frequent and clinically significant complication of pediatric osteopetrosis, and genotype-based treatment planning, and close surveillance for rebound hypercalcemia after transplantation are essential to improve outcomes.
Ebru Gök, E. Sarıkaya, Leyla Kara et al.· Frontiers in Endocrinology· 0 citations
This case demonstrates the importance of multidisciplinary follow-up and long-term planning, reinforcing the dentist's role in promoting oral health and quality of life for patients with osteogenesis imperfecta.
J. C. de Araújo, Isa Jane Galvão Pimentel, Alessandro Leite Cavalcanti· REVISTA SCIENTIA ODONTOLÓGIC...· 0 citations
A 27-year-old Chinese woman with TS (45,X0) and a history of osteoporosis and uveitis who presented with 11 years of low back pain and one month of bilateral ankle swelling is reported, emphasizing the importance of genetic and rheumatologic evaluation in complex presentations.
Jiao Luo, Lili Jiang, Chunhua Shi et al.· Journal of Medical Case Repo...· 0 citations
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