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Article

A New Case Report of Traboulsi Syndrome: A Literature Review and Insights Into Genotype-Phenotype Correlations.

Genes - 25 Aug 2024

Ibarra-Ramírez Marisol, Campos-Acevedo Luis D, Valenzuela-Lopez Aristides, López-Villanueva Luis Arturo, Fernandez-de-Luna Marissa, Mohamed-Noriega Jibran

Abstract excerpt

Traboulsi syndrome is a rare genetic disorder characterized by facial dysmorphism, lens subluxation, anterior segment anomalies, and spontaneous filtering blebs. The syndrome is due to mutations in the ASPH gene, which plays a crucial role in the development and maintenance of the lens. This case report describes the clinical and genetic findings in a Mexican male with Traboulsi syndrome, highlighting the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39336711
DOI: 10.3390/genes15091120
PMCID: PMC11431244

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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