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

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 spastic paraplegia...

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Autors principals: Kong, Xiao-Fei, Bousfiha, Aziz, Rouissi, Abdelfettah, Itan, Yuval, Abhyankar, Avinash, Bryant, Vanessa, Okada, Satoshi, Ailal, Fatima, Bustamante, Jacinta, Casanova, Jean-Laurent, Hirst, Jennifer, Boisson-Dupuis, Stéphanie
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2013
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Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3589270/
https://ncbi.nlm.nih.gov/pubmed/23472171
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0058286
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