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Bi-allelic PAGR1 variants are associated with microcephaly and a severe neurodevelopmental disorder: Genetic evidence from two families.
Daum, Hagit; Ganapathi, Mythily; Hirsch, Yoel; Griffin, Emily L; LeDuc, Charles A; Hagen, Jacob; Yagel, Simcha; Meiner, Vardiella; Chung, Wendy K; Mor-Shaked, Hagar.
Affiliation
  • Daum H; Department of Genetics, Hadassah Medical Organization and Faculty of Medicine, Hebrew University of Jerusalem, Israel.
  • Ganapathi M; Department of Pathology & Cell Biology, Columbia University, New York, New York, USA.
  • Hirsch Y; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Brooklyn, New York, USA.
  • Griffin EL; Department of Pediatrics, Columbia University, New York, New York, USA.
  • LeDuc CA; Department of Pediatrics, Columbia University, New York, New York, USA.
  • Hagen J; Department of Pediatrics, Columbia University, New York, New York, USA.
  • Yagel S; Obstetrics and gynecology, Hadassah Medical Organization and Faculty of Medicine, Hebrew University of Jerusalem, Israel.
  • Meiner V; Department of Genetics, Hadassah Medical Organization and Faculty of Medicine, Hebrew University of Jerusalem, Israel.
  • Chung WK; Departments of Pediatrics and Medicine, Columbia University, New York, New York, USA.
  • Mor-Shaked H; Department of Genetics, Hadassah Medical Organization and Faculty of Medicine, Hebrew University of Jerusalem, Israel.
Am J Med Genet A ; 188(1): 336-342, 2022 01.
Article in En | MEDLINE | ID: mdl-34585832
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cell Cycle Proteins / DNA-Binding Proteins / Neurodevelopmental Disorders / Microcephaly / Nervous System Malformations Type of study: Prognostic_studies / Risk_factors_studies Limits: Animals / Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Affiliation country: Israel
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cell Cycle Proteins / DNA-Binding Proteins / Neurodevelopmental Disorders / Microcephaly / Nervous System Malformations Type of study: Prognostic_studies / Risk_factors_studies Limits: Animals / Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Affiliation country: Israel