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A novel mutation in the aspartate beta-hydroxylase (ASPH) gene is associated with a rare form of Traboulsi syndrome.

Ophthalmic genetics - 1 Feb 2021

Senthil Sirisha, Sharma Sarmeela, Vishwakarma Sushma, Kaur Inderjeet

Abstract excerpt

BACKGROUND: Traboulsi syndrome is a rare autosomal recessive genetic disorder. The present study aimed to identify the pathogenic variants in the ASPH gene responsible for a rare and unique presentation of Traboulsi syndrome associated with cardiac disorder. METHODOLOGY: DNA was isolated from the blood samples from 3 clinically diagnosed Traboulsi syndrome patients (n = 3) after obtaining a prior-informed...

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Identifiers

PMID: 33251883
DOI: 10.1080/13816810.2020.1836659

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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