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Article

Whole-exome sequencing identifies PRSS56 variants in Chinese patients with microphthalmia.

BMC medical genomics - 21 Apr 2026

Luo Jingyi, Li Kaijing, Yang Runcai, Tang Mingjun, Ge Jian

Abstract excerpt

PURPOSE: This study aimed to elucidate the genetic and clinical profiles of Chinese patients with microphthalmia harbouring PRSS56 variants and investigate the genotype‒phenotype correlation. METHODS: Whole-exome sequencing (WES) was performed in patients with microphthalmia and available family members to assess coding regions and adjacent intronic splice boundaries for variant detection and downstream...

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Source

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Identifiers

PMID: 42015194
DOI: 10.1186/s12920-026-02376-9
PMCID: PMC13238036

Genes

PRSS56

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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