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
A New Case Report of Traboulsi Syndrome: A Literature Review and Insights Into Genotype-Phenotype Correlations.
Ibarra-Ramírez M et al.
Genes, 2024
Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPH.
Van Hoorde T et al.
Ophthalmic Genetics, 2021
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
Recurrent unintentional filtering blebs after vitrectomy: A case report.
Shanmugam PM et al.
Indian Journal of Ophthalmology, 2020
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