Associated Papers
Genetic and radiological aspects of pediatric renal cystic disease: A case series
Pacheco-Orozco RA et al.
Biomedica : Revista Del Instituto Nacional De Salud, 2024
Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report.
Duque-Cordoba PA et al.
Medicine, 2023
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.
Martínez-Rubio D et al.
International Journal of Molecular Sciences, 2022
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
Delous M et al.
Nature Genetics, 2007
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