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
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
A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome.
Abarca Barriga HH et al.
American Journal of Medical Genetics. Part A, 2018
Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome.
Patel N et al.
American Journal of Human Genetics, 2014
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