Further Delineation of the Proximal 16p11.2 Microdeletion Syndrome: Novel Findings Among 22 New Individuals.

Autor: McRae AM; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA., Duncan J; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, 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, Northwestern University, Chicago, Illinois, USA., Ing 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, Northwestern University, Chicago, Illinois, USA., Allegretti V; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, 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, Northwestern University, Chicago, Illinois, USA., Mercier 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, Northwestern University, Chicago, Illinois, 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, Northwestern University, Chicago, Illinois, USA., Jurgensmeyer S; 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, Northwestern University, Chicago, Illinois, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Sep 11, pp. e63873. Date of Electronic Publication: 2024 Sep 11.

Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome.

Autor: 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.

Publikováno v: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2024 Jul 18, pp. e32095. Date of Electronic Publication: 2024 Jul 18.