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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.
Afiliación
  • 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 en En | MEDLINE | ID: mdl-34585832
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas de Ciclo Celular / Proteínas de Unión al ADN / Trastornos del Neurodesarrollo / Microcefalia / Malformaciones del Sistema Nervioso Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Israel
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas de Ciclo Celular / Proteínas de Unión al ADN / Trastornos del Neurodesarrollo / Microcefalia / Malformaciones del Sistema Nervioso Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Israel