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

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Bibliographic Details
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
Description
ISSN:2472-1727
DOI:10.1002/bdr2.1801