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Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes.

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Title: Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes.
Authors: Abell K; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Tolusso L; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Smith N; Department of Obstetrics and Gynecology, Good Samaritan Hospital, Cincinnati, Ohio, USA., Hopkin R; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Vawter-Lee M; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Division of Child Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Habli M; Department of Obstetrics and Gynecology, Good Samaritan Hospital, Cincinnati, Ohio, USA.; Cincinnati Fetal Center, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Riddle S; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Division of Neonatology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Calvo-Garcia MA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Department of Radiology and Medical Imaging, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Guan Q; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Bierbrauer K; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Department of Pediatric Neurosurgery, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Hwa V; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Saal HM; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Source: Birth defects research [Birth Defects Res] 2020 Nov; Vol. 112 (19), pp. 1733-1737. Date of Electronic Publication: 2020 Sep 15.
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural
Journal Info: Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101701004 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2472-1727 (Electronic) NLM ISO Abbreviation: Birth Defects Res Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes.
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  Data: <searchLink fieldCode="AU" term="%22Abell+K%22">Abell K</searchLink>; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.<br /><searchLink fieldCode="AU" term="%22Tolusso+L%22">Tolusso L</searchLink>; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.<br /><searchLink fieldCode="AU" term="%22Smith+N%22">Smith N</searchLink>; Department of Obstetrics and Gynecology, Good Samaritan Hospital, Cincinnati, Ohio, USA.<br /><searchLink fieldCode="AU" term="%22Hopkin+R%22">Hopkin R</searchLink>; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.<br /><searchLink fieldCode="AU" term="%22Vawter-Lee+M%22">Vawter-Lee M</searchLink>; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Division of Child Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.<br /><searchLink fieldCode="AU" term="%22Habli+M%22">Habli M</searchLink>; Department of Obstetrics and Gynecology, Good Samaritan Hospital, Cincinnati, Ohio, USA.; Cincinnati Fetal Center, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.<br /><searchLink fieldCode="AU" term="%22Riddle+S%22">Riddle S</searchLink>; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Division of Neonatology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.<br /><searchLink fieldCode="AU" term="%22Calvo-Garcia+MA%22">Calvo-Garcia MA</searchLink>; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Department of Radiology and Medical Imaging, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.<br /><searchLink fieldCode="AU" term="%22Guan+Q%22">Guan Q</searchLink>; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.<br /><searchLink fieldCode="AU" term="%22Bierbrauer+K%22">Bierbrauer K</searchLink>; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Department of Pediatric Neurosurgery, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.<br /><searchLink fieldCode="AU" term="%22Hwa+V%22">Hwa V</searchLink>; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.<br /><searchLink fieldCode="AU" term="%22Saal+HM%22">Saal HM</searchLink>; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
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  Data: <searchLink fieldCode="JN" term="%22101701004%22">Birth defects research</searchLink> [Birth Defects Res] 2020 Nov; Vol. 112 (19), pp. 1733-1737. <i>Date of Electronic Publication: </i>2020 Sep 15.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22John+Wiley+%26+Sons%2C+Inc%22">John Wiley & Sons, Inc </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101701004 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2472-1727 (Electronic) <i>NLM ISO Abbreviation: </i>Birth Defects Res <i>Subsets: </i>MEDLINE
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              Text: 2020 Nov
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