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Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.

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Title: Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Authors: Wojcik MH; Division of Newborn Medicine, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA., Srivastava S; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Agrawal PB; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Neonatology, Department of Pediatrics, Miller School of Medicine, University of Miami and Holtz Children's Hospital, Jackson Health System, Miami, Florida, USA., Balci TB; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ontario, Canada., Callewaert B; Center for Medical Genetics, Pediatrics Department, Ghent University Hospital, Ghent, Belgium., Calvo PL; Pediatric Gastroenterology Unit, Regina Margherita Children's Hospital, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza, Turin, Italy., Carli D; Department of Public Health and Pediatrics, University of Torino, Torino, Italy., Caudle M; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ontario, Canada., Colaiacovo S; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ontario, Canada., Cross L; Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA., Demetriou K; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia., Drazba K; Greenwood Genetic Center, Greenwood, South Carolina, USA., Dutra-Clarke M; Division of Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA., Edwards M; Paediatrics, School of Medicine, Western Sydney University, Hunter Genetics, Newcastle, New South Wales, Australia., Genetti CA; Division of Genetics and Genomics, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA., Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA., Hickey SE; Department of Pediatrics, The Ohio State University College of Medicine, Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA., Isidor B; Department of Medical Genetics, Nantes Hospital, Nantes, France., Küry S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France., Lachman HM; Departments of Behavioral Science, Medicine, and Psychiatry, Albert Einstein College of Medicine, Bronx, New York, USA., Lavillaureix A; Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, CHU Rennes, Hôpital Sud, Rennes, France., Lyons MJ; Greenwood Genetic Center, Greenwood, South Carolina, USA., Marcelis C; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands., Marco EJ; Cortica Healthcare, Marin Center, San Rafael, California, USA., Martinez-Agosto JA; Division of Genetics, Departments of Pediatrics and Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA., Nowak C; Division of Genetics and Genomics, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA., Pizzol A; Pediatric Gastroenterology Unit, Regina Margherita Children's Hospital, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza, Turin, Italy., Planes M; Service de Génétique Clinique, University Hospital Morvan, Brest, France., Prijoles EJ; Greenwood Genetic Center, Greenwood, South Carolina, USA., Riberi E; Department of Public Health and Pediatrics, University of Torino, Torino, Italy., Rush ET; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, Missouri, USA.; Division of Genetics, Children's Mercy Kansas City, Kansas City, Missouri, USA.; Department of Internal Medicine, University of Kansas School of Medicine, Kansas City, Missouri, USA., Russell BE; Division of Genetics, Departments of Pediatrics and Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA., Sachdev R; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia., Schmalz B; Department of Pediatrics, The Ohio State University College of Medicine, Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA., Shears D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Stevenson DA; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, California, USA., Wilson K; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Jansen S; Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands., de Vries BBA; Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands., Curry CJ; Genetic Medicine, Department of Pediatrics, University of California San Francisco/Fresno, Fresno, California, USA.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Jul; Vol. 191 (7), pp. 1900-1910. Date of Electronic Publication: 2023 May 14.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
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Description
ISSN:1552-4833
DOI:10.1002/ajmg.a.63226