Trichothiodystrophy Due to ERCC2 Variants: Uncommon Contributor to Progressive Hypomyelinating Leukodystrophy.

Ali Reza Tavasoli, Arastoo Kaki, Maedeh Ganji, Seyyed Mohammad Kahani, Foozhan Radmehr,Pouria Mohammadi, Morteza Heidari,Mahmoud Reza Ashrafi, Kara S Lewis

Molecular genetics & genomic medicine（2025）

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Key words

ERCC2,hypomyelination,leukodystrophy,trichothiodystrophy

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