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Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.
Iqbal, Maria; Maroofian, Reza; Çavdarli, Büsranur; Riccardi, Florence; Field, Michael; Banka, Siddharth; Bubshait, Dalal K; Li, Yun; Hertecant, Jozef; Baig, Shahid Mahmood; Dyment, David; Efthymiou, Stephanie; Abdullah, Uzma; Makhdoom, Ehtisham Ul Haq; Ali, Zafar; Scherf de Almeida, Tobias; Molinari, Florence; Mignon-Ravix, Cécile; Chabrol, Brigitte; Antony, Jayne; Ades, Lesley; Pagnamenta, Alistair T; Jackson, Adam; Douzgou, Sofia; Beetz, Christian; Karageorgou, Vasiliki; Vona, Barbara; Rad, Aboulfazl; Baig, Jamshaid Mahmood; Sultan, Tipu; Alvi, Javeria Raza; Maqbool, Shazia; Rahman, Fatima; Toosi, Mehran Beiraghi; Ashrafzadeh, Farah; Imannezhad, Shima; Karimiani, Ehsan Ghayoor; Sarwar, Yasra; Khan, Sheraz; Jameel, Muhammad; Noegel, Angelika A; Budde, Birgit; Altmüller, Janine; Motameny, Susanne; Höhne, Wolfgang; Houlden, Henry; Nürnberg, Peter; Wollnik, Bernd; Villard, Laurent; Alkuraya, Fowzan Sami.
Affiliation
  • Iqbal M; Cologne Center for Genomics (CCG), University of Cologne and University Hospital Cologne, Cologne, Germany.
  • Maroofian R; Institute of Biochemistry I, Medical Faculty, University of Cologne, Cologne, Germany.
  • Çavdarli B; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, Pakistan.
  • Riccardi F; Department of Neuromuscular Disorders, UCL Institute of Neurology, London, UK.
  • Field M; Department of Medical Genetics, Ankara Bilkent City Hospital, Ankara, Turkey.
  • Banka S; Aix Marseille Univ, INSERM, MMG, Marseille, France.
  • Bubshait DK; Assistance Publique-Hôpitaux de Marseille, Hôpital La Timone Enfants, Département de Génétique Médicale, Marseille, France.
  • Li Y; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW, Australia.
  • Hertecant J; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.
  • Baig SM; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Dyment D; Department of Pediatrics, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.
  • Efthymiou S; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
  • Abdullah U; Paediatric Genetic and Metabolic Service, Tawam Hospital, Al Ain, United Arab Emirates.
  • Makhdoom EUH; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, Pakistan.
  • Ali Z; Department of Biological and Biomedical Sciences, Aga Khan University, Karachi, Pakistan.
  • Scherf de Almeida T; Pakistan Science Foundation (PSF), Islamabad, Pakistan.
  • Molinari F; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.
  • Mignon-Ravix C; Department of Neuromuscular Disorders, UCL Institute of Neurology, London, UK.
  • Chabrol B; University Institute of Biochemistry and Biotechnology (UIBB), PMAS-Arid Agriculture University, Rawalpindi, Pakistan.
  • Antony J; Cologne Center for Genomics (CCG), University of Cologne and University Hospital Cologne, Cologne, Germany.
  • Ades L; Institute of Biochemistry I, Medical Faculty, University of Cologne, Cologne, Germany.
  • Pagnamenta AT; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, Pakistan.
  • Jackson A; Neurochemicalbiology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, Faisalabad, Pakistan.
  • Douzgou S; Centre for Biotechnology and Microbiology, University of Swat, Swat, Pakistan.
  • Beetz C; Aix Marseille Univ, INSERM, MMG, Marseille, France.
  • Karageorgou V; Aix Marseille Univ, INSERM, MMG, Marseille, France.
  • Vona B; Assistance Publique-Hôpitaux de Marseille, APHM, Hôpital Timone Enfants, Service de Neurologie Pédiatrique, Marseille, France.
  • Rad A; T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, Australia.
  • Baig JM; Specialty of Child and Adolescent Health and Discipline of Genomic Medicine, The Children's Hospital at Westmead Clinical School, University of Sydney, Sydney, Australia.
  • Sultan T; Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, Australia.
  • Alvi JR; National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
  • Maqbool S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.
  • Rahman F; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Toosi MB; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.
  • Ashrafzadeh F; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Karimiani EG; CENTOGENE GmbH, Rostock, Germany.
  • Sarwar Y; CENTOGENE GmbH, Rostock, Germany.
  • Khan S; Department of Otolaryngology, Head and Neck Surgery, Tübingen Hearing Research Centre (THRC), Eberhard Karls University Tübingen, Tübingen, Germany.
  • Jameel M; Department of Otolaryngology, Head and Neck Surgery, Tübingen Hearing Research Centre (THRC), Eberhard Karls University Tübingen, Tübingen, Germany.
  • Noegel AA; Department of Bioinformatics & Biotechnology, Faculty of Basic and Applied Sciences, International Islamic University, Islamabad, Pakistan.
  • Budde B; Department of Pediatric Neurology, Children's Hospital and Institute of Child Health, Lahore, Pakistan.
  • Altmüller J; Department of Pediatric Neurology, Children's Hospital and Institute of Child Health, Lahore, Pakistan.
  • Motameny S; Development and Behavioural Pediatrics Department, Institute of Child Health and The Children Hospital, Lahore, Pakistan.
  • Höhne W; Development and Behavioural Pediatrics Department, Institute of Child Health and The Children Hospital, Lahore, Pakistan.
  • Houlden H; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Nürnberg P; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Wollnik B; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Villard L; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, UK.
  • Alkuraya FS; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran.
Genet Med ; 23(11): 2138-2149, 2021 11.
Article in En | MEDLINE | ID: mdl-34244665
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Full text: 1 Database: MEDLINE Main subject: Neurodevelopmental Disorders / Intellectual Disability / Microcephaly Limits: Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2021 Type: Article Affiliation country: Germany
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Full text: 1 Database: MEDLINE Main subject: Neurodevelopmental Disorders / Intellectual Disability / Microcephaly Limits: Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2021 Type: Article Affiliation country: Germany