Publications by authors named "Abdellatif Elfarra"
BMC Med Genomics
March 2022
Article Synopsis
- The BCS1L gene is crucial for mitochondrial function, and mutations in this gene are a major cause of mitochondrial diseases, leading to a range of symptoms.
- A case report describes a Saudi patient with a new mutation in the BCS1L gene, identified through genetic analysis, resulting in severe health issues and multiple physical abnormalities.
- The patient's symptoms include conductive hearing loss, unique facial features, and serious metabolic problems, emphasizing the mutation's significant impact on health and development.
