Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

Archive ouverte

Margot, Henri | Boursier, Guilaine | Duflos, Claire | Sanchez, Elodie | Amiel, Jeanne | Andrau, Jean Christophe | Arpin, Stéphanie | Brischoux-Boucher, Elise | Boute, Odile | Burglen, Lydie | Caille, Charlotte | Capri, Yline | Collignon, Patrick | Conrad, Solène | Cormier-Daire, Valerie | Delplancq, Geoffroy | Dieterich, Klaus | Dollfus, Hélène | Fradin, Mélanie | Faivre, Laurence | Fernandes, Helder | Francannet, Christine | Gatinois, Vincent | Gérard, Marion | Goldenberg, Alice | Ghoumid, Jamal | Grotto, Sarah | Guerrot, Anne-Marie | Guichet, Agnès | Isidor, Bertrand | Jacquemont, Marie-Line | Julia, Sophie | Philip, K | Legendre, Marine | Le Quan Sang, K. | Leheup, Bruno | Lyonnet, Stanislas | Magry, Virginie | Manouvrier, Sylvie | Martin, Dominique, P. | Morel, Godelieve | Munnich, Arnold | Naudion, Sophie | Odent, Sylvie | Perrin, Laurence | Petit, Florence | Philip, Nicole | Rio, Marlène | Robbe, Julie | Rossi, Massimiliano | Sarrazin, Elisabeth | Toutain, Annick | van Gils, Julien | Vera, Gabriella | Verloes, Alain | Weber, Sacha | Whalen, Sandra | Sanlaville, Damien | Lacombe, Didier | Aladjidi, Nathalie | Geneviève, David | Khau van Kien, Philippe | van Gils, Julie

Edité par CCSD ; Nature Publishing Group -

International audience

Suggestions

Du même auteur

PFMG2025–integrating genomic medicine into the national healthcare system in France

Archive ouverte | Abadie, Caroline | CCSD

International audience. Integrating genomic medicine into healthcare systems is a health policy challenge that requires continuously transferring scientific advances into clinics and ensuring equal access for patien...

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

Archive ouverte | Messiaen, Claude | CCSD

International audience. Abstract Background In France, the Ministry of Health has implemented a comprehensive program for rare diseases (RD) that includes an epidemiological program as well as the establishment of e...

Growth charts in Kabuki syndrome 1

Archive ouverte | Ruault, Valentin | CCSD

International audience. Abstract Kabuki syndrome (KS, KS1: OMIM 147920 and KS2: OMIM 300867) is caused by pathogenic variations in KMT2D or KDM6A . KS is characterized by multiple congenital anomalies and neurodevel...

Chargement des enrichissements...