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
A new BCl6 transcriptional corepressor (BCOR) variant mosaicism in a fetus with severe fetal eye anomalies.
Sign Up to like & getrecommendations! Published in 2022 at "Fetal diagnosis and therapy"
DOI: 10.1159/000524360
Abstract: We present the prenatal imaging of a fetus with severe eye anomalies diagnosed carrying a new variant mosaicism on the BCOR gene. read more here.
Keywords: variant mosaicism; fetus severe; eye anomalies;
Eye anomalies in children born through ART
Sign Up to like & getrecommendations! Published in 2021 at "Romanian Journal of Ophthalmology"
DOI: 10.22336/rjo.2021.65
Abstract: Due to the increasing rate of couples suffering from infertility, recently, the use of assisted reproductive technology (ART) has increased by 5%–10% per year. Some ART pregnancies are at risk of obstetric and neonatal complications,… read more here.
Keywords: eye anomalies; born art; art; art pregnancies ... See more keywords