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

Henri Margot | Zendy; Guilaine Boursier | Zendy; Claire Duflos | Zendy; Elodie Sanchez | Zendy; Jeanne Amiel | Zendy; JeanChristophe Andrau | Zendy; Stéphanie Arpin | Zendy; Elise BrischouxBoucher | Zendy; Odile Boute | Zendy; Lydie Bürglen | Zendy; Charlotte Caille | Zendy; Yline Capri | Zendy; Patrick Collig | Zendy; Solène Conrad | Zendy; Valérie CormierDaire | Zendy; Geoffroy Delplancq | Zendy; Klaus Dieterich | Zendy; Hélène Dollfus | Zendy; Mélanie Fradin | Zendy; Laurence Faivre | Zendy; Helder Fernandes | Zendy; Christine Francannet | Zendy; Vincent Gâtinois | Zendy; Marion Gérard | Zendy; Alice Goldenberg | Zendy; Jamal Ghoumid | Zendy; Sarah Grotto | Zendy; AnneMarie Guerrot | Zendy; Agnès Guichet | Zendy; Bertrand Isidor | Zendy; MarieLine Jacquemont | Zendy; Sophie Julia | Zendy; Philippe Khau Van Kien | Zendy; Marine Legendre | Zendy; KimHanh Le Quan Sang | Zendy; Bruno Leheup | Zendy; Stanislas Lyonnet | Zendy; Virginie Magry | Zendy; Sylvie Manouvrier | Zendy; Dominique Martin | Zendy; Godeliève Morel | Zendy; Arnold Münnich | Zendy; Sophie Naudion | Zendy; Sylvie Odent | Zendy; Laurence Perrin | Zendy; Florence Petit | Zendy; Nicole Philip | Zendy; Marlène Rio | Zendy; Julie Robbe | Zendy; Massimiliano Rossi | Zendy; Elisabeth Sarrazin | Zendy; Annick Toutain | Zendy; Julien VanGils | Zendy; Gabriella Vera | Zendy; Alain Verloès | Zendy; Sacha Weber | Zendy; Sandra Whalen | Zendy; Damien Sanlaville | Zendy; Didier Lacombe | Zendy; Nathalie Aladjidi | Zendy; David Geneviève | Zendy

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

Author(s) -

Henri Margot,

Guilaine Boursier,

Claire Duflos,

Elodie Sanchez,

Jeanne Amiel,

JeanChristophe Andrau,

Stéphanie Arpin,

Elise BrischouxBoucher,

Odile Boute,

Lydie Bürglen,

Charlotte Caille,

Yline Capri,

Patrick Collig,

Solène Conrad,

Valérie CormierDaire,

Geoffroy Delplancq,

Klaus Dieterich,

Hélène Dollfus,

Mélanie Fradin,

Laurence Faivre,

Helder Fernandes,

Christine Francannet,

Vincent Gâtinois,

Marion Gérard,

Alice Goldenberg,

Jamal Ghoumid,

Sarah Grotto,

AnneMarie Guerrot,

Agnès Guichet,

Bertrand Isidor,

MarieLine Jacquemont,

Sophie Julia,

Philippe Khau Van Kien,

Marine Legendre,

KimHanh Le Quan Sang,

Bruno Leheup,

Stanislas Lyonnet,

Virginie Magry,

Sylvie Manouvrier,

Dominique Martin,

Godeliève Morel,

Arnold Münnich,

Sophie Naudion,

Sylvie Odent,

Laurence Perrin,

Florence Petit,

Nicole Philip,

Marlène Rio,

Julie Robbe,

Massimiliano Rossi,

Elisabeth Sarrazin,

Annick Toutain,

Julien VanGils,

Gabriella Vera,

Alain Verloès,

Sacha Weber,

Sandra Whalen,

Damien Sanlaville,

Didier Lacombe,

Nathalie Aladjidi,

David Geneviève

Publication year - 2019

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/s41436-019-0623-x

Subject(s) - kabuki , medicine , patient registry , kabuki syndrome , pediatrics , dermatology , family medicine , art , visual arts

Kabuki 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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