Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans.

Autor: Guimier A; Laboratory of Embryology and Genetics of Human Malformations, INSERM U1163, Université de Paris, Institut Imagine, 75015 Paris, France.; Service de Médecine Génomique des Maladies Rares, APHP.CUP, Hôpital Necker-Enfants Malades, 75015 Paris, France., de Pontual L; Laboratory of Embryology and Genetics of Human Malformations, INSERM U1163, Université de Paris, Institut Imagine, 75015 Paris, France., Braddock SR; Division of Medical Genetics, Department of Pediatrics, Saint Louis University School of Medicine, St. Louis, MO 63104, USA., Torti E; GeneDx, Gaithersburg, MD 20877, USA., Pérez-Jurado LA; Servicio de Genética, Hospital del Mar, Programa de Neurociencias, Instituto Hospital del Mar de Investigaciones Médicas (IMIM), 08003 Barcelona, Spain.; Unidad de Genética, Universitat Pompeu Fabra, 08002 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 08003 Barcelona, Spain., 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; Servicio de Patología, Hospital del Mar, 08003 Barcelona, Spain., Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA., Lee H; Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA., Wang LK; Institute for Precision Health, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA., Pluym ID; Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of California, Los Angeles, Los Angeles, CA 90095, USA., Lynch SA; Children's Health Ireland at Crumlin, Dublin D12 N512, Ireland., Stals K; Genomic Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK., Ellard S; Genomic Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX2 5DW, UK., Muller C; Laboratory of Embryology and Genetics of Human Malformations, INSERM U1163, Université de Paris, Institut Imagine, 75015 Paris, France., Houyel L; M3C-Necker, Centre de Référence Malformations Cardiaques Congénitales Complexes (M3C), Hôpital Universitaire Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France., Cohen L; ETCC, 91300 Massy, France., Lyonnet S; Laboratory of Embryology and Genetics of Human Malformations, INSERM U1163, Université de Paris, Institut Imagine, 75015 Paris, France.; Service de Médecine Génomique des Maladies Rares, APHP.CUP, Hôpital Necker-Enfants Malades, 75015 Paris, France., Bajolle F; M3C-Necker, Centre de Référence Malformations Cardiaques Congénitales Complexes (M3C), Hôpital Universitaire Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France., Amiel J; Laboratory of Embryology and Genetics of Human Malformations, INSERM U1163, Université de Paris, Institut Imagine, 75015 Paris, France.; Service de Médecine Génomique des Maladies Rares, APHP.CUP, Hôpital Necker-Enfants Malades, 75015 Paris, France., Gordon CT; Laboratory of Embryology and Genetics of Human Malformations, INSERM U1163, Université de Paris, Institut Imagine, 75015 Paris, France.
Jazyk: angličtina
Zdroj: Human molecular genetics [Hum Mol Genet] 2023 Jan 13; Vol. 32 (3), pp. 353-356.
DOI: 10.1093/hmg/ddac084
Databáze: MEDLINE