Article
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
Journal of medical genetics - 1 Jun 2022
Laquerriere Annie, Jaber Dana, Abiusi Emanuela, Maluenda Jérome, Mejlachowicz Dan, Vivanti Alexandre, Dieterich Klaus, Stoeva Radka, Quevarec Loic, Nolent Flora, Biancalana Valerie, Latour Philippe, Sternberg Damien, Capri Yline, Verloes Alain, Bessieres Bettina, Loeuillet Laurence, Attie-Bitach Tania, Martinovic Jelena, Blesson Sophie, Petit Florence, Beneteau Claire, Whalen Sandra, Marguet Florent, Bouligand Jerome, Héron Delphine, Viot Géraldine, Amiel Jeanne, Amram Daniel, Bellesme Céline, Bucourt Martine, Faivre Laurence, Jouk Pierre-Simon, Khung Suonavy, Sigaudy Sabine, Delezoide Anne-Lise, Goldenberg Alice, Jacquemont Marie-Line, Lambert Laetitia, Layet Valérie, Lyonnet Stanislas, Munnich Arnold, Van Maldergem Lionel, Piard Juliette, Guimiot Fabien, Landrieu Pierre, Letard Pascaline, Pelluard Fanny, Perrin Laurence, Saint-Frison Marie-Hélène, Topaloglu Haluk, Trestard Laetitia, Vincent-Delorme Catherine, Amthor Helge, Barnerias Christine, Benachi Alexandra, Bieth Eric, Boucher Elise, Cormier-Daire Valerie, Delahaye-Duriez Andrée, Desguerre Isabelle, Eymard Bruno, Francannet Christine, Grotto Sarah, Lacombe Didier, Laffargue Fanny, Legendre Marine, Martin-Coignard Dominique, Mégarbané André, Mercier Sandra, Nizon Mathilde, Rigonnot Luc, Prieur Fabienne, Quélin Chloé, Ranjatoelina-Randrianaivo Hanitra, Resta Nicoletta, Toutain Annick, Verhelst Helene, Vincent Marie, Colin Estelle, Fallet-Bianco Catherine, Granier Michèle, Grigorescu Romulus, Saada Julien, Gonzales Marie, Guiochon-Mantel Anne, Bessereau Jean-Louis, Tawk Marcel, Gut Ivo, Gitiaux Cyril, Melki Judith
Abstract excerpt
BACKGROUND: Arthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate the added value of whole exome sequencing (WES) compared with targeted exome sequencing (TES) and to identify new genes in 315 unrelated undiagnosed AMC...
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