Article
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56.
Scientific reports - 28 Jan 2020
Almoallem Basamat, Arno Gavin, De Zaeytijd Julie, Verdin Hannah, Balikova Irina, Casteels Ingele, de Ravel Thomy, Hull Sarah, Suzani Martina, Destrée Anne, Peng Michelle, Williams Denise, Ainsworth John R, Webster Andrew R, Leroy Bart P, Moore Anthony T, De Baere Elfride
Abstract excerpt
This study aimed to genetically and clinically characterize a unique cohort of 25 individuals from 21 unrelated families with autosomal recessive nanophthalmos (NNO) and posterior microphthalmia (MCOP) from different ethnicities. An ophthalmological assessment in all families was followed by targeted MFRP and PRSS56 testing in 20 families and whole-genome sequencing in one family. Three families underwent...
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