De novo RANBP2 variant in a fetal demise case with cerebral intraparenchymal hemorrhage.
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| Title: | De novo RANBP2 variant in a fetal demise case with cerebral intraparenchymal hemorrhage. |
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| Authors: | Meroni A; Department of Obstetrics and Gynecology, IRCCS San Matteo Foundation, Pavia, Italy.; Department of Clinical, Surgical, Diagnostic and Paediatric Sciences, University of Pavia, Pavia, Italy., Kalantari S; Department of Medical Sciences, University of Turin, Turin, Italy., Arossa A; Department of Obstetrics and Gynecology, IRCCS San Matteo Foundation, Pavia, Italy.; Department of Clinical, Surgical, Diagnostic and Paediatric Sciences, University of Pavia, Pavia, Italy., Spinillo A; Department of Obstetrics and Gynecology, IRCCS San Matteo Foundation, Pavia, Italy.; Department of Clinical, Surgical, Diagnostic and Paediatric Sciences, University of Pavia, Pavia, Italy., Melito C; Department of Obstetrics and Gynecology, IRCCS San Matteo Foundation, Pavia, Italy.; Department of Clinical, Surgical, Diagnostic and Paediatric Sciences, University of Pavia, Pavia, Italy., Scatigno AL; Department of Obstetrics and Gynecology, IRCCS San Matteo Foundation, Pavia, Italy.; Department of Clinical, Surgical, Diagnostic and Paediatric Sciences, University of Pavia, Pavia, Italy., Cesari S; Department of Pathology, IRCCS San Matteo Foundation, Pavia, Italy., Giorgio E; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Medical Genetics Unit, IRCCS Mondino Foundation, Pavia, Italy., Furione M; Molecular Virology Unit, Microbiology and Virology Department, IRCCS San Matteo Foundation, Pavia, Italy., Homfray T; Department of Genetics, St George's University Hospital, London, UK., Sirchia F; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Medical Genetics Unit, IRCCS San Matteo Foundation, Pavia, Italy. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2023 Jul; Vol. 191 (7), pp. 1973-1977. Date of Electronic Publication: 2023 Apr 27. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.63223 |
