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Updated: Jul 5, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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双性SOX8变体与肌肉病,骨形,智力障碍和卵巢功能障碍的新型综合征相关

Jodi Warman-Chardon1, Taila Hartley1, Aren Elizabeth Marshall1

  • 1From the Department of Medicine (J.W.-C., P.R.B., A.B., H.L.), The Ottawa Hospital; The Ottawa Hospital Research Institute (J.W.-C., P.R.B., H.L., J.W., M.L.S., G.M.); Faculty of Medicine (J.W.-C., P.R.B., A.B., H.L., J.W., M.L.S., D.A.D., K.M.B.); Children's Hospital of Eastern Ontario Research Institute (J.W.-C., T.H., A.E.M., A.M., H.L., D.A.D., K.M.B., K.K.), University of Ottawa; Hospital for Sick Children (M.C.), Centre for Computational Medicine, Toronto, Canada; Department of Obstetrics (W.M., M.R.W.M.), Gynaecology and Reproductive Sciences, University of Pittsburgh School of Medicine; Magee-Womens Research Institute (W.M., M.R.W.M.), Pittsburgh, PA; Department of Pathology and Laboratory Medicine (A.B., J.W.), The Ottawa Hospital; Department of Radiology (M.L.S., G.M.), Radiation Oncology and Medical Physics, University of Ottawa; Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University; and Newborn Screening Ontario (K.K.), Children's Hospital of Eastern Ontario, Ottawa, Canada.

Neurology. Genetics
|January 18, 2024
PubMed
概括

在一个患有无法解释的先天性疾病的病人身上发现了双性SOX8变异. 这些变异影响基因调节和蛋白质功能,揭示了SOX8的存在.

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