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
Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report.
Bui TPH et al.
Bmc Medical Genetics, 2020
Isolated congenital hepatic fibrosis associated with TMEM67 mutations: report of a new genotype-phenotype relationship.
Vogel I et al.
Clinical Case Reports, 2017
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