Associated Papers
Structural and functional consequences of aspartate/asparagine-β-hydroxylase variants causing Traboulsi syndrome.
Hou CX et al.
The Journal of Biological Chemistry, 2025
Whole-exome sequencing identified a novel homozygous ASPH frameshift variant causing Traboulsi syndrome in a Chinese family.
Lei C et al.
Molecular Genetics & Genomic Medicine, 2021
Aspartate/asparagine-β-hydroxylase crystal structures reveal an unexpected epidermal growth factor-like domain substrate disulfide pattern.
Pfeffer I et al.
Nature Communications, 2019
A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome.
Abarca Barriga HH et al.
American Journal of Medical Genetics. Part A, 2018
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