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Osteogenesis imperfecta (OI), a brittle bone disease is a rare genetic condition characterised by skeletal anomalies that results in higher bone fragility, reduced bone mass, deformity, and other connective-tissue signs in which the body is unable to form healthy bones. This case report presents a case of an 11-year-old male kid who visited our hos...
Citations
... GS is usually sporadic, although familial cases have occasionally been reported. In addition, mutations in chromosomes 1,4,5,7,6,9,10,12,[14][15][16][17][18]22, and X have been reported (21). Lopez et al. proved that MYT1 is a candidate gene locus for GS by performing wholeexome sequencing and single nucleotide polymorphism sequence analysis (22). ...
Rare diseases are diseases that occur at low prevalence, and most of them are chronic and serious diseases that are often life-threatening. Currently, there is no unified definition for rare diseases. The diagnosis, treatment, and research of rare diseases have become the focus of medicine and biopharmacology, as well as the breakthrough point of clinical and basic research. Birth defects are the hard-hit area of rare diseases and the frontiers of its research. Since most of these defects have a genetic basis, early screening and diagnosis have important scientific value and social significance for the prevention and control of such diseases. At present, there is no effective treatment for most rare diseases, but progress in prenatal diagnosis and screening can prevent the occurrence of diseases and help prevent and treat rare diseases. This article discusses the progress in genetic-related birth defects and rare diseases.
