Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals
- 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,
- 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
DOIAbstract
International audienceKabuki syndrome (KS) (OMIM 147920 and 300867) is a rare genetic disorder characterized by specific facial features, intellectual disability, and various malformations. Immunopathological manifestations seem prevalent and increase the morbimortality. To assess the frequency and severity of the manifestations, we measured the prevalence of immunopathological manifestations as well as genotype-phenotype correlations in KS individuals from a registry
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