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PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene.
Õunap, Katrin; Muru, Kai; Õiglane-Shlik, Eve; Ilves, Pilvi; Pajusalu, Sander; Kuus, Imbi; Wojcik, Monica H; Reimand, Tiia.
Affiliation
  • Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia; Broad Institute of MIT and Harvard, Cambridge, MA, USA. Electronic address: katrin.ounap@kliinikum.ee
  • Muru K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
  • Õiglane-Shlik E; Children's Clinic, Tartu University Hospital, Tartu, Estonia; Department of Paediatrics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
  • Ilves P; Radiology Clinic of Tartu University Hospital, Tartu, Estonia; Department of Radiology, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
  • Pajusalu S; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia; Yale University School of Medicine, Department of Genetics, New Haven, CT, USA.
  • Kuus I; Eye Clinic, Tartu University Hospital, Tartu, Estonia.
  • Wojcik MH; Broad Institute of MIT and Harvard, Cambridge, MA, USA; Divisions of Genetics and Genomics and Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Reimand T; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
Eur J Med Genet ; 63(2): 103660, 2020 Feb.
Article in En | MEDLINE | ID: mdl-31048081
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spasms, Infantile / Transcription Factors / Brain Edema / Nuclear Proteins / Optic Atrophy / Neurodegenerative Diseases Type of study: Prognostic_studies Limits: Female / Humans / Newborn Country/Region as subject: Europa Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Country of publication: Netherlands
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spasms, Infantile / Transcription Factors / Brain Edema / Nuclear Proteins / Optic Atrophy / Neurodegenerative Diseases Type of study: Prognostic_studies Limits: Female / Humans / Newborn Country/Region as subject: Europa Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Country of publication: Netherlands