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Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities.
Schneeberger, Pauline E; von Elsner, Leonie; Barker, Emma L; Meinecke, Peter; Marquardt, Iris; Alawi, Malik; Steindl, Katharina; Joset, Pascal; Rauch, Anita; Zwijnenburg, Petra J G; Weiss, Marjan M; Merry, Catherine L R; Kutsche, Kerstin.
Affiliation
  • Schneeberger PE; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • von Elsner L; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Barker EL; Nottingham Biodiscovery Institute, University of Nottingham, University Park NG7 2RD, UK.
  • Meinecke P; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Marquardt I; Klinik für Neuropädiatrie und angeborene Stoffwechselerkrankungen, Klinikum Oldenburg, 26133 Oldenburg, Germany.
  • Alawi M; Bioinformatics Core, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Steindl K; Institute of Medical Genetics, University of Zürich, 8952 Schlieren, Switzerland.
  • Joset P; Institute of Medical Genetics, University of Zürich, 8952 Schlieren, Switzerland.
  • Rauch A; Institute of Medical Genetics, University of Zürich, 8952 Schlieren, Switzerland.
  • Zwijnenburg PJG; Department of Clinical Genetics, Amsterdam University Medical Center, 1081 Amsterdam, the Netherlands.
  • Weiss MM; Department of Clinical Genetics, Amsterdam University Medical Center, 1081 Amsterdam, the Netherlands.
  • Merry CLR; Nottingham Biodiscovery Institute, University of Nottingham, University Park NG7 2RD, UK.
  • Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address: kkutsche@uke.de.
Am J Hum Genet ; 107(6): 1044-1061, 2020 12 03.
Article in En | MEDLINE | ID: mdl-33159882
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Full text: 1 Database: MEDLINE Main subject: Bone and Bones / Sulfotransferases / Developmental Disabilities / Corpus Callosum / Kidney Limits: Adolescent / Child / Child, preschool / Female / Humans / Male / Newborn Language: En Journal: Am J Hum Genet Year: 2020 Type: Article Affiliation country: Germany
Fulltext
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Full text: 1 Database: MEDLINE Main subject: Bone and Bones / Sulfotransferases / Developmental Disabilities / Corpus Callosum / Kidney Limits: Adolescent / Child / Child, preschool / Female / Humans / Male / Newborn Language: En Journal: Am J Hum Genet Year: 2020 Type: Article Affiliation country: Germany