Associated Papers
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome.
D'Abrusco F et al.
European Journal of Human Genetics : Ejhg, 2025
39394465 (PubMed )
Supplement: 41431_2024_1703_MOESM1_ESM.pdf
Macular staphyloma in patients affected by Joubert syndrome with retinal dystrophy: a new finding detected by SD-OCT.
Toma C et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2018
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