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De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.
Penon-Portmann, Monica; Eldomery, Mohammad K; Potocki, Lorraine; Marafi, Dana; Posey, Jennifer E; Coban-Akdemir, Zeynep; Harel, Tamar; Grochowski, Christopher M; Loucks, Hailey; Devine, Walter Patrick; Van Ziffle, Jessica; Doherty, Dan; Lupski, James R; Shieh, Joseph T.
Affiliation
  • Penon-Portmann M; Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA.
  • Eldomery MK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Potocki L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Marafi D; Texas Children's Hospital, Houston, Texas, USA.
  • Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Harel T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Grochowski CM; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA.
  • Loucks H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Devine WP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Van Ziffle J; Department of Pediatrics, University of Washington, Seattle, WA, USA.
  • Doherty D; Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA.
  • Lupski JR; Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA.
  • Shieh JT; Department of Pediatrics, University of Washington, Seattle, WA, USA.
Am J Med Genet A ; 188(8): 2360-2366, 2022 08.
Article in En | MEDLINE | ID: mdl-35751429
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Full text: 1 Database: MEDLINE Main subject: Abnormalities, Multiple / Eye Abnormalities / Polydactyly / Cation Transport Proteins / Kidney Diseases, Cystic / Megalencephaly Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans Language: En Year: 2022 Type: Article
Fulltext
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PubMed Links
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Full text: 1 Database: MEDLINE Main subject: Abnormalities, Multiple / Eye Abnormalities / Polydactyly / Cation Transport Proteins / Kidney Diseases, Cystic / Megalencephaly Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans Language: En Year: 2022 Type: Article