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Expanding the phenotypic and genetic spectrum of GTPBP3 deficiency: findings from nine Chinese pedigrees.
Orphanet J Rare Dis. 2024 Dec 24;19(1):488. doi: 10.1186/s13023-024-03469-3.
Orphanet J Rare Dis. 2024.
PMID: 39719609
Free PMC article.
A novel m.5906G > a variant in MT-CO1 causes MELAS/Leigh overlap syndrome.
Liu Z, Xie Y, Lou X, Zeng X, Zhang L, Yu M, Wang J, Li J, Shen D, Li H, Zhao S, Zhou Y, Fang H, Lyu J, Yuan Y, Wang Z, Jin L, Fang F.
Liu Z, et al.
Mol Genet Genomics. 2024 Oct 26;299(1):102. doi: 10.1007/s00438-024-02181-y.
Mol Genet Genomics. 2024.
PMID: 39460813
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