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
Familial Ectopia Lentis: Looking Beyond Marfan's Syndrome.
Hussain SJ et al.
The Journal of the Association of Physicians of India, 2023
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
A novel mutation in the aspartate beta-hydroxylase (ASPH) gene is associated with a rare form of Traboulsi syndrome.
Senthil S 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
Loss of ciliary zonule protein hydroxylation and lens stability as a predicted consequence of biallelic ASPH variation.
Siggs OM et al.
Ophthalmic Genetics, 2019
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