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Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.
Schnabel, Franziska; Schuler, Elisabeth; Al-Maawali, Almundher; Chaurasia, Ankur; Syrbe, Steffen; Al-Kindi, Adila; Bhavani, Gandham SriLakshmi; Shukla, Anju; Altmüller, Janine; Nürnberg, Peter; Banka, Siddharth; Girisha, Katta M; Li, Yun; Wollnik, Bernd; Yigit, Gökhan.
Afiliação
  • Schnabel F; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073, Göttingen, Germany.
  • Schuler E; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, 04103, Leipzig, Germany.
  • Al-Maawali A; Division of Paediatric Epileptology, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.
  • Chaurasia A; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.
  • Syrbe S; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman.
  • Al-Kindi A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Bhavani GS; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, M13 9PL, UK.
  • Shukla A; Division of Paediatric Epileptology, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.
  • Altmüller J; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.
  • Nürnberg P; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman.
  • Banka S; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Li Y; Cologne Center for Genomics (CCG), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
  • Wollnik B; Core Facility Genomics, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.
  • Yigit G; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.
Hum Genet ; 142(4): 543-552, 2023 Apr.
Article em En | MEDLINE | ID: mdl-36943452
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article