Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report.
Paola Andrea Duque-CordobaLorena Díaz-OrdóñezJuan David Gutierrez-MedinaHarry PachajoaPublished in: Medicine (2023)
This is the first genetically confirmed case of JS in Colombia, the first carrier of biallelic RPGRIP1L gene mutations with hip dislocation and incomplete glottic closure and the first report of the novel c.3545del likely pathogenic variant causing JS.