Article
Growth charts in Kabuki syndrome 1.
American journal of medical genetics. Part A - 1 Mar 2020
Ruault Valentin, Corsini Carole, Duflos Claire, Akouete Sandrine, Georgescu Véra, Abaji Mario, Alembick Yves, Alix Eudeline, Amiel Jeanne, Amouroux Cyril, Barat-Houari Mouna, Baumann Clarisse, Bonnard Adeline, Boursier Guilaine, Boute Odile, Burglen Lydie, Busa Tiffany, Cordier Marie-Pierre, Cormier-Daire Valérie, Delrue Marie-Ange, Doray Bérénice, Faivre Laurence, Fradin Mélanie, Gilbert-Dussardier Brigitte, Giuliano Fabienne, Goldenberg Alice, Gorokhova Svetlana, Héron Delphine, Isidor Bertrand, Jacquemont Marie-Line, Jacquette Aurélia, Jeandel Claire, Lacombe Didier, Le Merrer Martine, Sang Kim Hanh Le Quan, Lyonnet Stanislas, Manouvrier Sylvie, Michot Caroline, Moncla Anne, Moutton Sébastien, Odent Sylvie, Pelet Anna, Philip Nicole, Pinson Lucile, Reversat Julie, Roume Joëlle, Sanchez Elodie, Sanlaville Damien, Sarda Pierre, Schaefer Elise, Till Marianne, Touitou Isabelle, Toutain Annick, Willems Marjolaine, Gatinois Vincent, Geneviève David
Abstract excerpt
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 neurodevelopmental disorders. Growth restriction is frequently reported. Here we aimed to create specific growth charts for individuals with KS1, identify parameters used for size prognosis and investigate the impact of growth hormone therapy on...
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