Associated Papers
Intermittent episodes of acute severe encephalomyopathy and early death in two siblings caused by biallelic likely pathogenic variants in FASTKD2: Expanding phenotype and literature review.
Kaur N et al.
Annals of Human Genetics, 2025
Inconsistencies between prenatal diagnostic and genetic testing laboratories on variant validation of rare monogenic diseases.
Lin L et al.
Prenatal Diagnosis, 2024
[The study of mitochondrial disorder pedigree associated with FASTKD2 variants and uniparental disomy].
Ma YN et al.
Zhonghua Yi Xue Za Zhi, 2023
A case report: New-onset refractory status epilepticus in a patient with FASTKD2-related mitochondrial disease.
Astner-Rohracher A et al.
Frontiers in Neurology, 2022
Human Mitoribosome Biogenesis and Its Emerging Links to Disease.
Lopez Sanchez MIG et al.
International Journal of Molecular Sciences, 2021
Mutations in FASTKD2 are associated with mitochondrial disease with multi-OXPHOS deficiency.
Wei X et al.
Human Mutation, 2020
Select a paper to view details