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Article

MFRP, PRSS56, and MYRF account for 60.5% of a Chinese cohort with nanophthalmos.

Clinical & experimental ophthalmology - 1 Mar 2025

Tao Jing, Jin Zi-Bing, Shen Ren-Juan

Abstract excerpt

BACKGROUND: This study aimed to present the genetic profile of a rare ocular disease nanophthalmos (NO) in a large Chinese cohort, to explore its genetic characteristics and genotype-phenotype correlations. METHODS: A total of 43 unrelated pedigrees diagnosed with NO were recruited. Whole exome sequencing and copy number variation analysis were performed, followed by validation and pathogenicity classification of...

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Source

Identifiers

PMID: 39569896
DOI: 10.1111/ceo.14465

Genes

MFRP
PRSS56

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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MFRP, PRSS56, and MYRF account for 60.5% of a Chinese cohort with nanophthalmos.PMID 39569896Read ↗

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The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56.Semantic proximity Read ↗

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