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
The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis.
Musleh M et al.
Genes, 2023
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.
Ewans LJ et al.
European Journal of Human Genetics : Ejhg, 2022
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
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