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AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia.
Terhal, Paulien; Venhuizen, Anton J; Lessel, Davor; Tan, Wen-Hann; Alswaid, Abdulrahman; Grün, Regina; Alzaidan, Hamad I; von Kroge, Simon; Ragab, Nada; Hempel, Maja; Kubisch, Christian; Novais, Eduardo; Cristobal, Alba; Tripolszki, Kornelia; Bauer, Peter; Fischer-Zirnsak, Björn; Nievelstein, Rutger A J; van Dijk, Atty; Nikkels, Peter; Oheim, Ralf; Hahn, Heidi; Bertoli-Avella, Aida; Maurice, Madelon M; Kornak, Uwe.
Afiliación
  • Terhal P; Division of Laboratories, Pharmacy and Biomedical Genetics, University Medical Centre Utrecht, 3584EA Utrecht, the Netherlands. Electronic address: p.a.terhal@umcutrecht.nl.
  • Venhuizen AJ; Center for Molecular Medicine and Oncode Institute, University Medical Centre Utrecht, 3584CG Utrecht, the Netherlands.
  • Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany; Institute of Human Genetics, University Hospital Salzburg, Paracelsus Medical University, 5020 Salzburg, Austria.
  • Tan WH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA.
  • Alswaid A; Department of Pediatrics, King Abdullah Specialized Children's Hospital, Riyadh 14611, Saudi Arabia; King Saud Bin Abdulaziz University For Health Sciences, Riyadh 22490, Saudi Arabia.
  • Grün R; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany.
  • Alzaidan HI; Medical Genetics Department, King Faisal Specialist Hospital and Research Center, Alfaisal University, Riyadh 11211, Saudi Arabia.
  • von Kroge S; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, 22529 Hamburg, Germany.
  • Ragab N; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany.
  • Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany; Institute of Human Genetics, Heidelberg University Hospital, 69120 Heidelberg, Germany.
  • Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany.
  • Novais E; Department of Orthopedic Surgery, Boston Children's Hospital, Boston, MA 02115, USA.
  • Cristobal A; Center for Molecular Medicine and Oncode Institute, University Medical Centre Utrecht, 3584CG Utrecht, the Netherlands.
  • Tripolszki K; Centogene GmbH, 18055 Rostock, Germany.
  • Bauer P; Centogene GmbH, 18055 Rostock, Germany; University Hospital Rostock, Internal Medicine, Hemato-oncology, 18057 Rostock, Germany.
  • Fischer-Zirnsak B; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.
  • Nievelstein RAJ; Department of Radiology & Nuclear Medicine, University Medical Centre Utrecht, 3584CX Utrecht, the Netherlands.
  • van Dijk A; Expert Center for Skeletal Dysplasia, Wilhelmina Children's Hospital, University Medical Center Utrecht, 3584EA Utrecht, the Netherlands.
  • Nikkels P; Department of Pathology, University Medical Centre Utrecht, 3584CX Utrecht, the Netherlands.
  • Oheim R; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, 22529 Hamburg, Germany.
  • Hahn H; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany.
  • Bertoli-Avella A; Centogene GmbH, 18055 Rostock, Germany.
  • Maurice MM; Center for Molecular Medicine and Oncode Institute, University Medical Centre Utrecht, 3584CG Utrecht, the Netherlands.
  • Kornak U; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany. Electronic address: uwe.kornak@med.uni-goettingen.de.
Am J Hum Genet ; 110(9): 1470-1481, 2023 09 07.
Article en En | MEDLINE | ID: mdl-37582359
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Osteosclerosis / Tanquirasas / Luxación de la Cadera Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Am J Hum Genet Año: 2023 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Osteosclerosis / Tanquirasas / Luxación de la Cadera Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Am J Hum Genet Año: 2023 Tipo del documento: Article