New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations
New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations
About this item
Full title
Author / Creator
Salih, Mustafa A , Mundwiller, Emeline , Khan, Arif O , AlDrees, Abdulmajeed , Elmalik, Salah A , Hassan, Hamdy H , Al-Owain, Mohammed , Alkhalidi, Hisham M S , Katona, Istvan , Kabiraj, Mohammad M , Chrast, Roman , Kentab, Amal Y , Alzaidan, Hamad , Rodenburg, Richard J , Bosley, Thomas M , Weis, Joachim , Koenig, Michel , Stevanin, Giovanni and Azzedine, Hamid
Publisher
United States: Public Library of Science
Journal title
Language
English
Formats
Publication information
Publisher
United States: Public Library of Science
Subjects
More information
Scope and Contents
Contents
Mutations in PLA2G6 gene have variable phenotypic outcome including infantile neuroaxonal dystrophy, atypical neuroaxonal dystrophy, idiopathic neurodegeneration with brain iron accumulation and Karak syndrome. The cause of this phenotypic variation is so far unknown which impairs both genetic diagnosis and appropriate family counseling. We report...
Alternative Titles
Full title
New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations
Authors, Artists and Contributors
Author / Creator
Mundwiller, Emeline
Khan, Arif O
AlDrees, Abdulmajeed
Elmalik, Salah A
Hassan, Hamdy H
Al-Owain, Mohammed
Alkhalidi, Hisham M S
Katona, Istvan
Kabiraj, Mohammad M
Chrast, Roman
Kentab, Amal Y
Alzaidan, Hamad
Rodenburg, Richard J
Bosley, Thomas M
Weis, Joachim
Koenig, Michel
Stevanin, Giovanni
Azzedine, Hamid
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_plos_journals_1440830152
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1440830152
Other Identifiers
ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0076831
