Septo-optic dysplasia and other midline defects: The role of transcription factors: HESX1 and beyond

Autor: McCabe, Mark James, Alatzoglou, Kyriaki S., Dattani, Mehul T.

Publikováno v: In Best Practice & Research Clinical Endocrinology & Metabolism 2011 25(1):115-124

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Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications.

Autor: Ewans LJ; St Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Darlinghurst, New South Wales, Australia lisa.ewans@gmail.com.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Colley A; Clinical Genetics Department, Liverpool Hospital, Liverpool, New South Wales, Australia., Gaston-Massuet C; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, John Vane Science Centre, Charterhouse Square, London, UK., Gualtieri A; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, John Vane Science Centre, Charterhouse Square, London, UK., Cowley MJ; St Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Darlinghurst, New South Wales, Australia.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., McCabe MJ; St Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Darlinghurst, New South Wales, Australia.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Anand D; Department of Biological Sciences, University of Delaware, Newark, Delaware, USA., Lachke SA; Department of Biological Sciences, University of Delaware, Newark, Delaware, USA.; Center for Bioinformatics and Computational Biology, University of Delaware, Newark, Delaware, USA., Scietti L; Department of Biology and Biotechnology, Universita degli Studi di Pavia, Pavia, Lombardia, Italy., Forneris F; Department of Biology and Biotechnology, Universita degli Studi di Pavia, Pavia, Lombardia, Italy., Zhu Y; Newcastle GOLD Service, Hunter Genetics, Waratah, New South Wales, Australia.; NSW Health Pathology East Laboratory, Prince of Wales Private Hospital, Randwick, New South Wales, Australia., Ying K; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Walsh C; NSW Health Pathology East Laboratory, Prince of Wales Private Hospital, Randwick, New South Wales, Australia., Kirk EP; NSW Health Pathology East Laboratory, Prince of Wales Private Hospital, Randwick, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales, Randwick, New South Wales, Australia., Miller D; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Giunta C; Connective Tissue Unit, Division of Metabolism, University Children's Hospital Zurich, Zurich, Switzerland., Sillence D; Genomic Medicine, University of Sydney, Sydney, New South Wales, Australia., Dinger M; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Kensington Campus, Sydney, New South Wales, Australia., Buckley M; NSW Health Pathology East Laboratory, Prince of Wales Private Hospital, Randwick, New South Wales, Australia., Roscioli T; NSW Health Pathology East Laboratory, Prince of Wales Private Hospital, Randwick, New South Wales, Australia.; Neuroscience Research Australia, Prince of Wales Clinical School, University of New South Wales, Sydney, New South Wales, Australia.

Publikováno v: Journal of medical genetics [J Med Genet] 2019 Sep; Vol. 56 (9), pp. 629-638. Date of Electronic Publication: 2019 May 25.