Associated Papers
Expanding the Clinical Spectrum of CEP290 Variants: A Case Report on Non-Syndromic Retinal Dystrophy with a Mild Phenotype.
Esteve-Garcia A et al.
Genes, 2024
39766851 (PubMed )
Supplement: genes-15-01584-s001.zip › genes-3308832-supplementary.pdf
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
Brancati F et al.
Clinical Genetics, 2008
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