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Posterior microphthalmos with retinal involvement related to MFRP gene: a report of 10 Brazilian patients.

Ophthalmic genetics - 1 Aug 2024

Amaral Rebeca A S, Zin Olivia A, Moraes Remo T, Porto Fernanda B O, Carricondo Pedro C, Pimentel Sergio L G, Kestelman Bernardo P, Watanabe Sung E S, Sallum Juliana M F

Abstract excerpt

BACKGROUND: To describe the phenotype and genotype of 10 Brazilian patients with variants in MFRP, posterior microphthalmos and retinal findings. METHODS: Complete ophthalmological evaluation was done at 4 different Brazilian centers. Genetic analysis was performed using commercial next generation sequencing panels for inherited retinal disorders. RESULTS: Ages of the patients ranged from 10 to 65 years and...

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Identifiers

PMID: 38557281
DOI: 10.1080/13816810.2024.2322650

Genes

MFRP

Variants

Provenance

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