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PMID: 30275510 Published · ppublish English Journal Article Published Erratum

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM

Abstract

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作者与单位
共 70 位作者,点击展开单位 / ORCID
Koczkowska Magdalena
Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.
Callens Tom
Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.
Gomes Alicia
Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.
Sharp Angela
Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.
Chen Yunjia
Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.
Hicks Alesha D
Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.
Aylsworth Arthur S
Departments of Pediatrics and Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Azizi Amedeo A
Division of Neonatology, Pediatric Intensive Care and Neuropediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
Basel Donald G
Children's Hospital of Wisconsin, Milwaukee, WI, USA.
Bellus Gary
Department of Clinical Genetics and Metabolism, Children's Hospital, University of Colorado School of Medicine, Denver, Aurora, CO, USA.
Bird Lynne M
Department of Pediatrics, University of California San Diego; Division of Genetics/Dysmorphology, Rady Children's Hospital, San Diego, CA, USA.
Blazo Maria A
Baylor Scott and White Hospital, Temple, TX, USA.
Burke Leah W
Clinical Genetics Program, University of Vermont Medical Center, Burlington, VT, USA.
Cannon Ashley
Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.
Collins Felicity
Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, NSW, Australia.
DeFilippo Colette
Department of Pediatrics, Division of Genomic Medicine, UC Davis MIND Institute, Sacramento, CA, USA.
Denayer Ellen
Department of Human Genetics, KU Leuven - University of Leuven, Leuven, Belgium.
Digilio Maria C
Medical Genetics Unit, Bambino Gesù Children's, IRCCS, Rome, Italy.
Dills Shelley K
Carolinas Medical Center, Charlotte, NC, USA.
Dosa Laura
SOC Genetica Medica, AOU Meyer, Florence, Italy.
Greenwood Robert S
Department of Neurology, Division of Child Neurology, University of North Carolina School of Medicine, Chapel Hill, NC, USA.
Griffis Cristin
Children's Hospital of Wisconsin, Milwaukee, WI, USA.
Gupta Punita
Neurofibromatosis Diagnostic & Treatment Program, St. Joseph's Children's Hospital, Paterson, NJ, USA.
Hachen Rachel K
Neurofibromatosis Program, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Hernández-Chico Concepción
Department of Genetics, Hospital Universitario Ramón y Cajal, Institute of Health Research (IRYCIS), Madrid, Spain. | Center for Biomedical Research-Network of Rare Diseases (CIBERER), Valencia, Spain.
Janssens Sandra
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Jones Kristi J
Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, NSW, Australia.
Jordan Justin T
Department of Neurology and Cancer Center, Massachusetts General Hospital, Boston, MA, USA.
Kannu Peter
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.
Korf Bruce R
Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.
Lewis Andrea M
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Listernick Robert H
Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Lonardo Fortunato
Medical Genetics Unit, G. Rummo Hospital, Benevento, Italy.
Mahoney Maurice J
Department of Genetics, Yale University, New Haven, CT, USA.
Ojeda Mayra Martinez
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
McDonald Marie T
Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC, USA.
McDougall Carey
Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Mendelsohn Nancy
Genomics Medicine Program, Children's Hospital Minnesota, Minneapolis, MN, USA.
Miller David T
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
Mori Mari
Department of Pediatrics, Warren Alpert Medical School, Brown University, Providence, RI, USA.
Oostenbrink Rianne
Department of General Pediatrics, Erasmus MC-Sophia, Rotterdam, The Netherlands.
Perreault Sebastién
CHU Sainte-Justine, Mother and Child University Hospital Center, Montréal, QC, Canada.
Pierpont Mary Ella
Department of Pediatrics and Ophthalmology, University of Minnesota, Minneapolis, MN, USA.
Piscopo Carmelo
U.O.S.C. Medical Genetics, A.O.R.N. "A. Cardarelli", Naples, Italy.
Pond Dinel A
Genomics Medicine Program, Children's Hospital Minnesota, Minneapolis, MN, USA.
Randolph Linda M
Division of Medical Genetics, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Rauen Katherine A
Department of Pediatrics, Division of Genomic Medicine, UC Davis MIND Institute, Sacramento, CA, USA.
Rednam Surya
Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, TX, USA.
Rutledge S Lane
Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.
Saletti Veronica
Developmental Neurology Unit, IRCCS Foundation, Carlo Besta Neurological Institute, Milan, Italy.
Schaefer G Bradley
Division of Medical Genetics, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA.
Schorry Elizabeth K
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Scott Daryl A
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Shugar Andrea
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.
Siqveland Elizabeth
Genomics Medicine Program, Children's Hospital Minnesota, Minneapolis, MN, USA.
Starr Lois J
Genetic Medicine, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, NE, USA.
Syed Ashraf
DCH Regional Medical Center and Northport Medical Center, Northport, AL, USA.
Trapane Pamela L
Stead Family Department of Pediatrics, University of Iowa Hospitals & Clinics, Iowa City, IA, USA.
Ullrich Nicole J
Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
Wakefield Emily G
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Walsh Laurence E
Department of Neurology, Indiana University School of Medicine, Indianapolis, IN, USA.
Wangler Michael F
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Zackai Elaine
Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Claes Kathleen B M
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Wimmer Katharina
Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
van Minkelen Rick
Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
De Luca Alessandro
IRCCS Casa Sollievo della Sofferenza, Molecular Genetics Unit, San Giovanni Rotondo, Foggia, Italy.
Martin Yolanda
Department of Genetics, Hospital Universitario Ramón y Cajal, Institute of Health Research (IRYCIS), Madrid, Spain. | Center for Biomedical Research-Network of Rare Diseases (CIBERER), Valencia, Spain.
Legius Eric
Department of Human Genetics, KU Leuven - University of Leuven, Leuven, Belgium.
Messiaen Ludwine M
Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA. lmessiaen@uabmc.edu.
Article Info
Journal
Genetics in medicine : official journal of the American College of Medical Genetics
Abbr.
Genet Med
ISSN
1530-0366
Corresponding email
Published
2019-00-00
页码
764-765
Language
English
Country/Region
United States
NLM ID
9815831
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