NFIA Haploinsufficiency Is Associated with a CNS Malformation Syndrome and Urinary Tract Defects

• Weining Lu ,

  Contributed equally to this work with: Weining Lu, Fabiola Quintero-Rivera, Yanli Fan

  Affiliations Genetics Division, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America , Renal Section, Boston University Medical Center, Boston, Massachusetts, United States of America

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• Fabiola Quintero-Rivera ,

  Contributed equally to this work with: Weining Lu, Fabiola Quintero-Rivera, Yanli Fan

  ¤ Current address: David Geffen School of Medicine and Department of Pathology & Laboratory Medicine, University of California Los Angeles, Los Angeles, California, United States of America

  Affiliation Center for Human Genetic Research, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, United States of America

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• Yanli Fan ,

  Contributed equally to this work with: Weining Lu, Fabiola Quintero-Rivera, Yanli Fan

  Affiliation Genetics Division, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America

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• Fowzan S Alkuraya,

  Affiliation Genetics Division, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America

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• Diana J Donovan,

  Affiliation Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America

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• Qiongchao Xi,

  Affiliation Genetics Division, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America

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• Annick Turbe-Doan,

  Affiliation Genetics Division, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America

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• Qing-Gang Li,

  Affiliation Renal Section, Boston University Medical Center, Boston, Massachusetts, United States of America

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• Craig G Campbell,

  Affiliation Division of Neurology, Children's Hospital of Western Ontario, London, Ontario, Canada

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• Alan L Shanske,

  Affiliation Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York, United States of America

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• Elliott H Sherr,

  Affiliation Department of Neurology, University of California San Francisco, San Francisco, California, United States of America

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• Ayesha Ahmad,

  Affiliation Division of Genetic and Metabolic Disorders, Department of Pediatrics, Wayne State University, Detroit, Michigan, United States of America

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• Roxana Peters,

  Affiliation Genetics Division, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America

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• Benedict Rilliet,

  Affiliation Department of Neurosurgery, University Hospital, Geneva, Switzerland

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• Paloma Parvex,

  Affiliation Department of Nephrology, University Hospital, Geneva, Switzerland

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• Alexander G Bassuk,

  Affiliation Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, United States of America

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• David J Harris,

  Affiliation Genetics Division, Children's Hospital Boston and Harvard Medical School, Boston, Massachusetts, United States of America

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• Heather Ferguson,

  Affiliation Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America

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• Chantal Kelly,

  Affiliation Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America

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• Christopher A Walsh,

  Affiliations Genetics Division, Children's Hospital Boston and Harvard Medical School, Boston, Massachusetts, United States of America , Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts, United States of America , Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts, United States of America

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• Richard M Gronostajski,

  Affiliation Department of Biochemistry, State University of New York at Buffalo, Buffalo, New York, United States of America

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• Koenraad Devriendt,

  Affiliation Centre for Human Genetics, University of Leuven, Leuven, Belgium

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• Anne Higgins,

  Affiliation Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America

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• Azra H Ligon,

  Affiliation Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America

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• Bradley J Quade,

  Affiliation Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America

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• Cynthia C Morton,

  Affiliations Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America , Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America

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• James F Gusella,

  Affiliation Center for Human Genetic Research, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, United States of America

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•  [ ... ],
• Richard L Maas

  *To whom correspondence should be addressed. E-mail: maas@genetics.med.harvard.edu

  Affiliation Genetics Division, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America

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