Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
Sign Up to like & getrecommendations! Published in 2021 at "Genetics in Medicine"
DOI: 10.1038/s41436-021-01196-9
Abstract: Purpose To investigate the effect of PLXNA1 variants on the phenotype of patients with autosomal dominant and recessive inheritance patterns and to functionally characterize the zebrafish homologs plxna1a and plxna1b during development. Methods We assembled… read more here.
Keywords: biallelic monoallelic; novel neurodevelopmental; eye anomalies; eye ... See more keywords
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia
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DOI: 10.1371/journal.pone.0268149
Abstract: Classical aniridia is a congenital and progressive panocular disorder almost exclusively caused by heterozygous loss-of-function variants at the PAX6 locus. We report nine individuals from five families with severe aniridia and/or microphthalmia (with no detectable… read more here.
Keywords: function; microphthalmia; mab21l1; monoallelic variants ... See more keywords