Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
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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