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Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans.
Guimier, Anne; de Pontual, Loïc; Braddock, Stephen R; Torti, Erin; Pérez-Jurado, Luis A; Muñoz-Cabello, Patricia; Arumí, Montserrat; Monaghan, Kristin G; Lee, Hane; Wang, Lee-Kai; Pluym, Ilina D; Lynch, Sally Ann; Stals, Karen; Ellard, Sian; Muller, Cécile; Houyel, Lucile; Cohen, Laurence; Lyonnet, Stanislas; Bajolle, Fanny; Amiel, Jeanne; Gordon, Christopher T.
Affiliation
  • Guimier A; Laboratory of Embryology and Genetics of Human Malformations, INSERM U1163, Université de Paris, Institut Imagine, 75015 Paris, France.
  • de Pontual L; Service de Médecine Génomique des Maladies Rares, APHP.CUP, Hôpital Necker-Enfants Malades, 75015 Paris, France.
  • Braddock SR; Laboratory of Embryology and Genetics of Human Malformations, INSERM U1163, Université de Paris, Institut Imagine, 75015 Paris, France.
  • Torti E; Division of Medical Genetics, Department of Pediatrics, Saint Louis University School of Medicine, St. Louis, MO 63104, USA.
  • Pérez-Jurado LA; GeneDx, Gaithersburg, MD 20877, USA.
  • Muñoz-Cabello P; Servicio de Genética, Hospital del Mar, Programa de Neurociencias, Instituto Hospital del Mar de Investigaciones Médicas (IMIM), 08003 Barcelona, Spain.
  • Arumí M; Unidad de Genética, Universitat Pompeu Fabra, 08002 Barcelona, Spain.
  • Monaghan KG; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 08003 Barcelona, Spain.
  • Lee H; Servicio de Genética, Hospital del Mar, Programa de Neurociencias, Instituto Hospital del Mar de Investigaciones Médicas (IMIM), 08003 Barcelona, Spain.
  • Wang LK; Servicio de Patología, Hospital del Mar, 08003 Barcelona, Spain.
  • Pluym ID; GeneDx, Gaithersburg, MD 20877, USA.
  • Lynch SA; Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.
  • Stals K; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.
  • Ellard S; Institute for Precision Health, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.
  • Muller C; Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of California, Los Angeles, Los Angeles, CA 90095, USA.
  • Houyel L; Children's Health Ireland at Crumlin, Dublin D12 N512, Ireland.
  • Cohen L; Genomic Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
  • Lyonnet S; Genomic Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
  • Bajolle F; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX2 5DW, UK.
  • Amiel J; Laboratory of Embryology and Genetics of Human Malformations, INSERM U1163, Université de Paris, Institut Imagine, 75015 Paris, France.
  • Gordon CT; M3C-Necker, Centre de Référence Malformations Cardiaques Congénitales Complexes (M3C), Hôpital Universitaire Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France.
Hum Mol Genet ; 32(3): 353-356, 2023 01 13.
Article in En | MEDLINE | ID: mdl-35396997
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Truncus Arteriosus, Persistent / Heart Defects, Congenital Limits: Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2023 Type: Article Affiliation country: France
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Truncus Arteriosus, Persistent / Heart Defects, Congenital Limits: Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2023 Type: Article Affiliation country: France