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A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.
Shankar, Suma P; Grimsrud, Kristin; Lanoue, Louise; Egense, Alena; Willis, Brandon; Hörberg, Johanna; AlAbdi, Lama; Mayer, Klaus; Ütkür, Koray; Monaghan, Kristin G; Krier, Joel; Stoler, Joan; Alnemer, Maha; Shankar, Prabhu R; Schaffrath, Raffael; Alkuraya, Fowzan S; Brinkmann, Ulrich; Eriksson, Leif A; Lloyd, Kent; Rauen, Katherine A.
Affiliation
  • Shankar SP; Division of Genomic Medicine, UC Davis Health MIND Institute, Department of Pediatrics, UC Davis Health, University of California, Davis, Sacramento, CA; Department of Ophthalmology and Vision Science, UC Davis Health, University of California, Davis, Sacramento, CA. Electronic address: spshankar@uc
  • Grimsrud K; Department of Pathology and Laboratory Medicine, UC Davis Health, University of California, Davis, Sacramento, CA; UC Davis Mouse Biology Program, University of California, Davis, Davis, CA.
  • Lanoue L; UC Davis Mouse Biology Program, University of California, Davis, Davis, CA.
  • Egense A; Division of Genomic Medicine, UC Davis Health MIND Institute, Department of Pediatrics, UC Davis Health, University of California, Davis, Sacramento, CA.
  • Willis B; UC Davis Mouse Biology Program, University of California, Davis, Davis, CA.
  • Hörberg J; Department of Chemistry and Molecular Biology, University of Gothenburg, Gothenburg, Sweden.
  • AlAbdi L; Department of Zoology, College of Science, King Saud University, Riyadh, Saudi Arabia; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Mayer K; Roche Pharma Research and Early Development (pRED), Roche Innovation Center Munich (RICM), Penzberg, Germany.
  • Ütkür K; Division of Microbiology, Institute of Biology, University of Kassel, Kassel, Germany.
  • Monaghan KG; GeneDx, Gaithersburg, MD.
  • Krier J; Division of Genetics, Brigham and Women's Hospital, Boston, MA; Undiagnosed Diseases Network.
  • Stoler J; Undiagnosed Diseases Network; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.
  • Alnemer M; Department of Obstetrics & Gynecology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Shankar PR; Division of Health Informatics, Department of Public Health Sciences, School of Medicine, University of California, Davis, Sacramento, CA.
  • Schaffrath R; Division of Microbiology, Institute of Biology, University of Kassel, Kassel, Germany.
  • Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Brinkmann U; Roche Pharma Research and Early Development (pRED), Roche Innovation Center Munich (RICM), Penzberg, Germany.
  • Eriksson LA; Department of Chemistry and Molecular Biology, University of Gothenburg, Gothenburg, Sweden.
  • Lloyd K; UC Davis Mouse Biology Program, University of California, Davis, Davis, CA; Department of Surgery, UC Davis Health, University of California, Davis, Sacramento, CA.
  • Rauen KA; Division of Genomic Medicine, UC Davis Health MIND Institute, Department of Pediatrics, UC Davis Health, University of California, Davis, Sacramento, CA.
Genet Med ; 24(7): 1567-1582, 2022 07.
Article in En | MEDLINE | ID: mdl-35482014
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Full text: 1 Database: MEDLINE Main subject: Neurodevelopmental Disorders / Methyltransferases Limits: Animals / Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2022 Type: Article
Fulltext
Add to My VHL
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Full text: 1 Database: MEDLINE Main subject: Neurodevelopmental Disorders / Methyltransferases Limits: Animals / Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2022 Type: Article