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A Novel Homozygous p.R1105X Mutation of the AP4E1 Gene in Twins with Hereditary Spastic Paraplegia and Mycobacterial Disease 원문보기

PloS one, v.8 no.3, 2013년, pp.e58286 -   

Kong, Xiao-Fei (St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, United States of America) ,  Bousfiha, Aziz (Clinical Immunology Unit, Department of Pediatrics, King Hassan II University, Ibn-Rochd Hospital, Casablanca, Morocco) ,  Rouissi, Abdelfettah (Pé) ,  Itan, Yuval (diatre du Secteur Libé) ,  Abhyankar, Avinash (ral, neurologie pé) ,  Bryant, Vanessa (diatre, Casablanca, Morocco) ,  Okada, Satoshi (St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, United States of America) ,  Ailal, Fatima (St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, United States of America) ,  Bustamante, Jacinta (St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, United States of America) ,  Casanova, Jean-Laurent (St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, United States of Americ) ,  Hirst, Jennifer ,  Boisson-Dupuis, Stéphanie

Abstract AI-Helper 아이콘AI-Helper

We report identical twins with intellectual disability, progressive spastic paraplegia and short stature, born to a consanguineous family. Intriguingly, both children presented with lymphadenitis caused by the live Bacillus Calmette-Guérin (BCG) vaccine. Two syndromes – hereditary spas...

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