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Article

A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy.

Molecular vision - 26 Mar 2010

Mukhopadhyay Rajarshi, Sergouniotis Panagiotis I, Mackay Donna S, Day Alexander C, Wright Genevieve, Devery Sophie, Leroy Bart P, Robson Anthony G, Holder Graham E, Li Zheng, Webster Andrew R

Abstract excerpt

PURPOSE: To determine the spectrum of mutations and phenotypic variability within patients with mutations in membrane-type frizzled related protein gene (MFRP). METHODS: Individuals were initially ascertained based on a phenotype similar to that previously published in association with MFRP mutations. Affected patients underwent a full ophthalmic examination (best-corrected visual acuity, slit-lamp examination,...

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Source

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Identifiers

PMID: 20361016
PMCID: PMC2846851

Genes

MFRP

Variants

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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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