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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
Pottie, Lore; Adamo, Christin S; Beyens, Aude; Lütke, Steffen; Tapaneeyaphan, Piyanoot; De Clercq, Adelbert; Salmon, Phil L; De Rycke, Riet; Gezdirici, Alper; Gulec, Elif Yilmaz; Khan, Naz; Urquhart, Jill E; Newman, William G; Metcalfe, Kay; Efthymiou, Stephanie; Maroofian, Reza; Anwar, Najwa; Maqbool, Shazia; Rahman, Fatima; Altweijri, Ikhlass; Alsaleh, Monerah; Abdullah, Sawsan Mohamed; Al-Owain, Mohammad; Hashem, Mais; Houlden, Henry; Alkuraya, Fowzan S; Sips, Patrick; Sengle, Gerhard; Callewaert, Bert.
Affiliation
  • Pottie L; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent 9000, Belgium; Department of Biomolecular Medicine, Ghent University, Ghent 9000, Belgium.
  • Adamo CS; Center for Biochemistry, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50931, Germany; Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50931, Germany.
  • Beyens A; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent 9000, Belgium; Department of Biomolecular Medicine, Ghent University, Ghent 9000, Belgium; Department of Dermatology, Ghent University Hospital, Ghent 9000, Belgium.
  • Lütke S; Center for Biochemistry, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50931, Germany; Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50931, Germany.
  • Tapaneeyaphan P; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent 9000, Belgium; Department of Biomolecular Medicine, Ghent University, Ghent 9000, Belgium.
  • De Clercq A; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent 9000, Belgium; Department of Biomolecular Medicine, Ghent University, Ghent 9000, Belgium.
  • Salmon PL; Bruker microCT, Kontich 2550, Belgium.
  • De Rycke R; Department of Biomedical Molecular Biology, Ghent University, Ghent 9052, Belgium; VIB Center for Inflammation Research, Ghent 9052, Belgium; Ghent University Expertise Centre for Transmission Electron Microscopy and VIB Bioimaging Core, Ghent 9052, Belgium.
  • Gezdirici A; Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul 34480, Turkey.
  • Gulec EY; Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Health Sciences University, Istanbul 34303, Turkey.
  • Khan N; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9WL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.
  • Urquhart JE; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9WL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.
  • Newman WG; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9WL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.
  • Metcalfe K; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.
  • Efthymiou S; Department of Neuromuscular Disorders, UCL Institute of Neurology, London WC1N 3BG, UK.
  • Maroofian R; Department of Neuromuscular Disorders, UCL Institute of Neurology, London WC1N 3BG, UK.
  • Anwar N; Development and Behavioral Pediatrics Department, Institute of Child Health and The Children Hospital, Lahore 54000, Pakistan.
  • Maqbool S; Development and Behavioral Pediatrics Department, Institute of Child Health and The Children Hospital, Lahore 54000, Pakistan.
  • Rahman F; Development and Behavioral Pediatrics Department, Institute of Child Health and The Children Hospital, Lahore 54000, Pakistan.
  • Altweijri I; Department of Neurosurgery, King Khalid University Hospital, Riyadh 11211, Saudi Arabia.
  • Alsaleh M; Heart Centre, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
  • Abdullah SM; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
  • Al-Owain M; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11211, Saudi Arabia.
  • Hashem M; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
  • Houlden H; Department of Neuromuscular Disorders, UCL Institute of Neurology, London WC1N 3BG, UK.
  • Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11211, Saudi Arabia.
  • Sips P; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent 9000, Belgium; Department of Biomolecular Medicine, Ghent University, Ghent 9000, Belgium.
  • Sengle G; Center for Biochemistry, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50931, Germany; Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50931, Germany; Center for Molecular Medi
  • Callewaert B; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent 9000, Belgium; Department of Biomolecular Medicine, Ghent University, Ghent 9000, Belgium. Electronic address: bert.callewaert@ugent.be.
Am J Hum Genet ; 108(6): 1095-1114, 2021 06 03.
Article in En | MEDLINE | ID: mdl-33991472
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Collagen / Cutis Laxa / Latent TGF-beta Binding Proteins Type of study: Prognostic_studies Limits: Adolescent / Animals / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Am J Hum Genet Year: 2021 Document type: Article Affiliation country:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Collagen / Cutis Laxa / Latent TGF-beta Binding Proteins Type of study: Prognostic_studies Limits: Adolescent / Animals / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Am J Hum Genet Year: 2021 Document type: Article Affiliation country: