Associated Papers
RNA Lariat-Debranching Enzyme (DBR1) Variations in Sabinas Brittle Hair Syndrome Form of Trichothiodystrophy: A Trichothiodystrophy-Causing Gene.
Khan SG et al.
The Journal of Investigative Dermatology, 2026
DBR1 Gene Mutation: Pathogenicity in the Homozygous State and Its Phenotype in Two Siblings.
Shawli A et al.
Clinical Genetics, 2025
A founder DBR1 variant causes a lethal form of congenital ichthyosis.
Shamseldin HE et al.
Human Genetics, 2023
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM2_ESM.pdf
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