Associated Papers
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
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
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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