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Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.
Thomas-Wilson, Amanda; Schacht, John P; Chitayat, David; Blaser, Susan; Santos, Francis Jeshira Reynoso; Glaser, Kimberly; Caffo, Alesky; Wentzensen, Ingrid M; Henderson, Lindsay B; Zhang, Futao; Zhu, Ying; Di Corleto, Ellen; da Silva Costa, Fabricio; Vink, Rebecca; Alkhunaizi, Ebba; Russell, Laura; Buckley, Michael F; Roscioli, Tony; Pereira, Elaine Maria; Ganapathi, Mythily.
Affiliation
  • Thomas-Wilson A; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York, USA.
  • Schacht JP; Department of Pediatrics, Division of Clinical Genetics, Columbia University Irving Medical Center, New York, New York, USA.
  • Chitayat D; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • Blaser S; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
  • Santos FJR; Department of Diagnostic Imaging, Division of Pediatric Neuroradiology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • Glaser K; Department of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, Florida, USA.
  • Caffo A; Department of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, Florida, USA.
  • Wentzensen IM; Department of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, Florida, USA.
  • Henderson LB; GeneDx, Gaithersburg, Maryland, USA.
  • Zhang F; GeneDx, Gaithersburg, Maryland, USA.
  • Zhu Y; New South Wales Health Pathology, Randwick Genomics Laboratory, Prince of Wales Hospital, Sydney, New South Wales, Australia.
  • Di Corleto E; New South Wales Health Pathology, Randwick Genomics Laboratory, Prince of Wales Hospital, Sydney, New South Wales, Australia.
  • da Silva Costa F; Maternal Fetal Medicine Unit, Gold Coast University Hospital, Gold Coast, Queensland, Australia.
  • Vink R; Maternal Fetal Medicine Unit, Gold Coast University Hospital, Gold Coast, Queensland, Australia.
  • Alkhunaizi E; School of Medicine and Dentistry, Griffith University, Gold Coast, Queensland, Australia.
  • Russell L; Neuroscience Research Australia (NeuRA), Sydney, New South Wales, Australia.
  • Buckley MF; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia.
  • Roscioli T; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • Pereira EM; Department of Medical Genetics, McGill University Health Centre, Montreal, Quebec, Canada.
  • Ganapathi M; Department of Medical Genetics, McGill University Health Centre, Montreal, Quebec, Canada.
Am J Med Genet A ; 191(7): 1935-1941, 2023 07.
Article in En | MEDLINE | ID: mdl-37031378
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Retinal Diseases / Microcephaly Type of study: Diagnostic_studies Limits: Female / Humans / Pregnancy Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2023 Type: Article Affiliation country: United States
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Retinal Diseases / Microcephaly Type of study: Diagnostic_studies Limits: Female / Humans / Pregnancy Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2023 Type: Article Affiliation country: United States