Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24332
Abstract: PAX5 is a transcription factor associated with abnormal posterior midbrain and cerebellum development in mice. PAX5 is highly loss‐of‐function intolerant and missense constrained, and has been identified as a candidate gene for autism spectrum disorder… read more here.
Keywords: neurodevelopmental syndrome; pax5 haploinsufficiency; delineation novel; syndrome associated ... See more keywords
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