Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.861236
Abstract: Laterality defects are defined by the perturbed left–right arrangement of organs in the body, occurring in a syndromal or isolated fashion. In humans, primary ciliary dyskinesia (PCD) is a frequent underlying condition of defective left–right… read more here.
Keywords: genetic variants; laterality; spectrum genetic; left right ... See more keywords
Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees
Sign Up to like & getrecommendations! Published in 2023 at "Genes"
DOI: 10.3390/genes14020404
Abstract: This study aimed to find the molecular basis of Bardet-Biedl syndrome (BBS) in Pakistani consanguineous families. A total of 12 affected families were enrolled. Clinical investigations were performed to access the BBS-associated phenotypes. Whole exome… read more here.
Keywords: bbs; delineating spectrum; biedl syndrome; bardet biedl ... See more keywords