Article
Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos.
Ophthalmic genetics - 1 Feb 2020
Bacci Giacomo Maria, Bargiacchi Sara, Fortunato Pina, Pisaneschi Elisa, Peluso Francesca, Marziali Elisa, Magli Adriano, Giglio Sabrina Rita, Caputo Roberto
Abstract excerpt
Background: Biallelic pathogenic variants in MFRP and PRSS56 genes can be responsible for nanophthalmos (NO) or posterior microphthalmos (PM). This study describes detailed clinical and molecular findings in a series of five patients affected by PM from four unrelated families.Materials and Methods: All patients underwent a complete ophthalmological and genetic evaluation. For proper and deep phenotyping a...
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