A McGill-led team of researchers has made an important discovery shedding light on the genetic basis of a rare skeletal disorder. The study, published in Nature Communications, reveals that a defect in a specific gene (heterozygous ...
Jan 16, 2024
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When it comes to height, our fate is sealed along with our growth plates—cartilage near the ends of bones that hardens as a child develops. Research published April 14 in the journal Cell Genomics shows that cells in these ...
Apr 14, 2023
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Three unrelated families on three continents (from continental Portugal, the United States and Brazil), all with healthy ancestors, had children with a very rare multi-organ condition that causes early-onset retinal degeneration, ...
Jul 19, 2019
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Researchers at Karolinska Institutet in Sweden have discovered a new and rare skeletal disease. In a study published in the journal Nature Medicine, they describe the molecular mechanism of the disease, in which small RNA ...
Feb 26, 2019
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Skeletal dysplasia is a group of rare diseases that afflict skeletal growth through abnormalities in bone and cartilage. Its onset hits at the fetal stage and is caused by genetic mutations. A mutation in the gene encoding ...
Sep 17, 2014
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(Medical Xpress) -- The Human Genetics team at The University of Queensland Diamantina Institute have successfully used a new gene-mapping approach for patients affected by severe skeletal abnormalities.
May 4, 2011
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