A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia a...
A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease
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United States: Public Library of Science
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Language
English
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Publisher
United States: Public Library of Science
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Contents
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 (HSP) and mycobacterial disease - thus occurred s...
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Full title
A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease
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TN_cdi_plos_journals_1330880645
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1330880645
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0058286
