Ciliopathies are multisystem disorders characterized by the dysfunction of motile and/or non-motile cilia, which show common clinical manifestations of ciliopathies include retinal degeneration, mental retardation, renal ...
Jun 7, 2024
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Behind the term ectodermal dysplasia lies a wide range of genetic disorders that can have a major impact on patients' lives and quality of life. Some cannot sweat, others are born with missing or cone-shaped teeth, while ...
Apr 2, 2024
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A new paper in Genome Biology and Evolution finds that the link between paternal age and rare congenital disorders is more complex than scientists had previously thought.
Feb 27, 2024
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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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The U.S. Food and Drug Administration (FDA) recently approved palovarotene (Sohonos) as the first treatment for fibrodysplasia ossifcans progressiva (FOP), a severely disabling condition that causes abnormal bone formation ...
Oct 2, 2023
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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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To perform coordinated movements, we rely on special sensory neurons in our muscles and joints. Without them, the brain wouldn't know what the rest of our body was doing. A team led by Niccolò Zampieri has studied their ...
Dec 9, 2022
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A new study led by Baylor College of Medicine identifies an underlying mechanism of pathogenesis for osteogenesis imperfecta (OI) in human bone. The report, published in the Journal of Clinical Investigation, also shows the ...
Feb 16, 2022
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A technique that uses ultrasound images to determine the depth and shape of the hip socket can accurately predict which infants with hip dysplasia will develop normal hip structure and which remain dysplastic, according to ...
Jan 25, 2022
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Fifty-five experts from 16 countries have collaborated on a new consensus statement on the management of achondroplasia (ACH), a genetic disorder that interferes with bone growth and causes dwarfism (short stature). ACH is ...
Dec 13, 2021
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