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Article

Genotype-phenotype profile of global ASPH-associated ectopia lentis and clinical findings from a Chinese cohort.

Gene - 20 Oct 2024

Chen Ze-Xu, Jia Wan-Nan, Sun Yang, Jiang Yong-Xiang

Abstract excerpt

BACKGROUND: Traboulsi syndrome is an under-recognized syndromic form of ectopia lentis (EL) caused by the aspartate beta-Hydroxylase (ASPH) variant. The genotype-phenotype profile of ASPH-associated disease is poorly understood due to the rarity of the condition. METHODS: We conducted targeted next-generation sequencing and bioinformatics analysis to identify potentially pathogenic ASPH variants in the cohort....

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Source

Identifiers

PMID: 38788814
DOI: 10.1016/j.gene.2024.148600

Genes

ASPH
EGF
FBN1
FBN2
LTBP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Genotype-phenotype profile of global ASPH-associated ectopia lentis and clinical findings from a Chinese cohort.PMID 38788814Read ↗

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