Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome.

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Title: Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome.
Authors: Garzon JP; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Patete A; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Aschbacher-Smith L; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Qu'd D; Alabama College of Osteopathic Medicine, Dothan, Alabama, USA., Kelly-Mancuso G; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Raski CR; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Weisman AG; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Hankins M; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Sawin M; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Kim K; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Drackley A; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Zeid J; Division of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Ophthalmology, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Weaver KN; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Hopkin RJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Saal HM; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Charrow J; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Schorry E; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Listernick R; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Simpson BN; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Tennessee Health Science Center, Memphis, Tennessee, USA.; Le Bonheur Children's Hospital, Memphis, Tennessee, USA.; St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Prada CE; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA.
Source: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2024 Dec; Vol. 196 (4), pp. e32095. Date of Electronic Publication: 2024 Jul 18.
Publication Type: Journal Article; Research Support, N.I.H., Extramural
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1552-4876
DOI:10.1002/ajmg.c.32095