Associated Papers
Alternative splicing events of three rare variants in CHKB gene causing megaconial congenital dystrophy.
Cotrina-Vinagre FJ et al.
Neurogenetics, 2025
Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene.
Wu T et al.
Molecular Genetics & Genomic Medicine, 2023
Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review.
Magri F et al.
Skeletal Muscle, 2022
36175989 (PubMed )
Supplement: 13395_2022_306_MOESM1_ESM.pdf
Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome.
Bardhan M et al.
Journal of Human Genetics, 2021
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