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Exome sequencing identifies the first genetic determinants of sirenomelia in humans.

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Title: Exome sequencing identifies the first genetic determinants of sirenomelia in humans.
Authors: Lecoquierre F; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France., Brehin AC; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.; Department of Foetopathology, CHU Rouen, Rouen, France., Coutant S; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France., Coursimault J; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France., Bazin A; Département de Génétique et de Biologie Spécialisée, Laboratoire Cerba, Saint Ouen l'Aumone, France., Finck W; Unité de Foetopathologie, Laboratoire d'anatomie et cytologie pathologique, CHU Clermont Ferrand, Clermont-Ferrand, France., Benoist G; Service de gynécologie-obstétrique et médecine de la reproduction, Centre Hospitalier Universitaire de Caen, Universite de Caen Normandie, Caen, Basse-Normandie, France., Begorre M; Department of Obstetrics, CHU Côte de Nacre, Caen, France., Beneteau C; Department of Clinical genetics, CHU Hôpital mère et enfant, Nantes, France., Cailliez D; Department of Foetopathology, Hopital Monod, Le Havre, France., Chenal P; Department of Foetopathology, Hopital Monod, Le Havre, France., De Jong M; Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands., Degré S; CPDPN, Hopital Monod, Le Havre, France., Devisme L; Institut de Pathologie, CHU Lille, Lille, France., Francannet C; Centre de référence des anomalies malformatives, Service de génétique médicale, CHU Clermont-Ferrand, Clermont-Ferrand, France.; Centre d'Etude des Malformations Congénitales, CEMC-Auvergne, CHU Clermont-Ferrand, Clermont-Ferrand, France., Gérard B; Department of Genetics, CHU de Strasbourg, Hôpital Civil, Strasbourg, France., Jeanne C; Department of Foetopathology, Centre François Baclesse, CHU Côte de Nacre, Caen, France., Joubert M; Department of Foetopathology, CHU Hôtel Dieu, Nantes, France., Journel H; Department of Clinical ge netics, CH Vannes, Vannes, France., Laurichesse Delmas H; Centre d'Etude des Malformations Congénitales, CEMC-Auvergne, CHU Clermont-Ferrand, Clermont-Ferrand, France.; Unité de Médecine Fœtale, Service de gynécologie-obstétrique, CHU Clermont-Ferrand, Clermont-Ferrand, France., Layet V; Department of Clinical Genetics, Hopital Monod, Le Havre, France., Liquier A; CPDPN, Hôpital Bagatelle, Talence, France., Mangione R; Departement of Radiology, Polyclinique Bordeaux Nord-Aquitaine, Bordeaux, France., Patrier S; Department of Foetopathology, CHU Rouen, Rouen, France., Pelluard F; Service d'Anatomie-Cytologie Pathologique, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.; INSERM UMR1053, Bordeaux Research in Translational Oncology, BaRITOn, Université de Bordeaux, Bordeaux, France., Petit F; Clinique de Génétique 'Guy Fontaine'-Centre de référence CLAD, Hôpital Jeanne de Flandre, CHU Lille, Lille, France., Tillouche N; Pôle Femme-Mère-Nouveau-né, Centre Hospitalier de Valenciennes, Valenciennes, France., van Ravenswaaij-Arts C; Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands., Frebourg T; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France., Saugier-Veber P; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France., Gruchy N; Department of Genetics, Normandy Center for Genomic and Personalized Medicine, Caen University Hospital, Caen, France., Nicolas G; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France., Gerard M; Department of Genetics, Normandy Center for Genomic and Personalized Medicine, Caen University Hospital, Caen, France.
Source: Human mutation [Hum Mutat] 2020 May; Vol. 41 (5), pp. 926-933. Date of Electronic Publication: 2020 Mar 01.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Database: MEDLINE Ultimate
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Description
ISSN:1098-1004
DOI:10.1002/humu.23998