Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity
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Author / Creator
Lin, Sheng-Jia , Vona, Barbara , Lau, Tracy , Huang, Kevin , Zaki, Maha S , Aldeen, Huda Shujaa , Karimiani, Ehsan Ghayoor , Rocca, Clarissa , Noureldeen, Mahmoud M , Saad, Ahmed K , Petree, Cassidy , Bartolomaeus, Tobias , Abou Jamra, Rami , Zifarelli, Giovanni , Gotkhindikar, Aditi , Wentzensen, Ingrid M , Liao, Mingjuan , Cork, Emalyn Elise , Varshney, Pratishtha , Hashemi, Narges , Mohammadi, Mohammad Hasan , Rad, Aboulfazl , Neira, Juanita , Toosi, Mehran Beiraghi , Knopp, Cordula , Kurth, Ingo , Challman, Thomas D , Smith, Rebecca , Abdalla, Asmahan , Haaf, Thomas , Suri, Mohnish , Joshi, Manali , Chung, Wendy K , Moreno-De-Luca, Andres , Houlden, Henry , Maroofian, Reza and Varshney, Gaurav K
Publisher
England: BioMed Central
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central
Subjects
More information
Scope and Contents
Contents
Biallelic variants in OGDHL, encoding part of the α-ketoglutarate dehydrogenase complex, have been associated with highly heterogeneous neurological and neurodevelopmental disorders. However, the validity of this association remains to be confirmed. A second OGDHL patient cohort was recruited to carefully assess the gene-disease relationship.
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Alternative Titles
Full title
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity
Authors, Artists and Contributors
Author / Creator
Vona, Barbara
Lau, Tracy
Huang, Kevin
Zaki, Maha S
Aldeen, Huda Shujaa
Karimiani, Ehsan Ghayoor
Rocca, Clarissa
Noureldeen, Mahmoud M
Saad, Ahmed K
Petree, Cassidy
Bartolomaeus, Tobias
Abou Jamra, Rami
Zifarelli, Giovanni
Gotkhindikar, Aditi
Wentzensen, Ingrid M
Liao, Mingjuan
Cork, Emalyn Elise
Varshney, Pratishtha
Hashemi, Narges
Mohammadi, Mohammad Hasan
Rad, Aboulfazl
Neira, Juanita
Toosi, Mehran Beiraghi
Knopp, Cordula
Kurth, Ingo
Challman, Thomas D
Smith, Rebecca
Abdalla, Asmahan
Haaf, Thomas
Suri, Mohnish
Joshi, Manali
Chung, Wendy K
Moreno-De-Luca, Andres
Houlden, Henry
Maroofian, Reza
Varshney, Gaurav K
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_f946c3f7f70a4b7caee99c8a98b2e0b2
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_f946c3f7f70a4b7caee99c8a98b2e0b2
Other Identifiers
ISSN
1756-994X
E-ISSN
1756-994X
DOI
10.1186/s13073-023-01258-4
