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Article

Mitochondrial genes modulate the phenotypic expression of congenital scoliosis syndrome caused by mutations in the TBXT gene.

Gene - 1 Jul 2024

Alila-Fersi Olfa, Tej Amel, Maalej Marwa, Kharrat Marwa, Boughamoura Lamia, Chouchen Jihen, Tlili Abdelaziz, Fakhfakh Faiza

Abstract excerpt

BACKGROUND: Congenital scoliosis (CS) is a spinal disorder caused by genetic-congenital vertebral malformations and may be associated with other congenital defects or may occur alone. It is genetically heterogeneous and numerous genes contributing to this disease have been identified. In addition, CS has a wide range of phenotypic and genotypic variability, which has been explained by the intervention of genetic...

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Identifiers

PMID: 38499212
DOI: 10.1016/j.gene.2024.148388

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