Ann Lab Med 2019; 39(5): 503-506  https://doi.org/10.3343/alm.2019.39.5.503
Identification of a Novel CHD7 Mutation in a CHARGE Syndrome Patient in Indonesia
Gara Samara Brajadenta , M.D.1,2, Agustini Utari , M.D.3,4, Sylvie Patri , Ph.D.2,5, Frédéric Bilan , Ph.D.2,5, Sultana Muhammad Hussein Faradz , M.D.3, Alain Kitzis , M.D.2, and Vincent Thoreau , Ph.D.2
1Department of Medical Biology, Division of Human Genetics, Faculty of Medicine, Swadaya Gunung Jati University, Cirebon, Indonesia; 2EA3808 Neurovascular Unit and Cognitive Impairments, University of Poitiers, Poitiers, France; 3Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University, Semarang, Indonesia; 4Department of Pediatrics, Faculty of Medicine, Diponegoro University/Diponegoro National Hospital, Semarang, Indonesia; 5Department of Genetics, Poitiers University Hospital, Poitiers, France
Corresponding author: Gara Samara Brajadenta, M.D.
Department of Medical Biology, Division of Human Genetics, Faculty of Medicine, Swadaya Gunung Jati University, Jalan Terusan Pemuda No. 1A, Cirebon, West Java 45132, Indonesia
Tel: +62-231-483928, Fax: +62-231-488923, E-mail: garabrajadenta@gmail.com
Received: October 25, 2018; Revised: January 28, 2019; Accepted: March 29, 2019; Published online: September 1, 2019.
© Korean Society for Laboratory Medicine. All rights reserved.

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