Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1682
Abstract: Joubert syndrome (JBTS) is a rare genetic disorder that is characterized by midbrainâhindbrain malformations. Multiple variants in genes that affect ciliary function contribute to the genetic and clinical heterogeneity of JBTS and its subtypes. However,… read more here.
Keywords: variability joubert; joubert syndrome; heterogeneity intrafamilial; clinical heterogeneity ... See more keywords