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
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