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A novel homozygous splice donor variant in the LRPPRC gene causing Leigh syndrome with epilepsy, a French-Canadian disorder in a Saudi family: case report.
Muthaffar, Osama Y; Abdulkareem, Angham Abdulrhman; Ashi, Abrar; Naseer, Muhammad Imran.
Affiliation
  • Muthaffar OY; Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Abdulkareem AA; Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Ashi A; Department of Biochemistry, Faculty of Science, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Naseer MI; King Fahd Medical Research Center, King Abdulaziz University, Jeddah, Saudi Arabia.
Front Pediatr ; 11: 1288542, 2023.
Article in En | MEDLINE | ID: mdl-38046674
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Front Pediatr Year: 2023 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Front Pediatr Year: 2023 Document type: Article Affiliation country: Country of publication: