Associated Papers
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
39291214 (PubMed )
Supplement: mmc1.xlsx › S2a._Diagnostic_cohort
Molecular Diagnosis and Prenatal Phenotype Analysis of Eight Fetuses With Ciliopathies.
Liu Y et al.
Frontiers in Genetics, 2021
Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report.
Bui TPH et al.
Bmc Medical Genetics, 2020
[HIGH INCIDENCE AND BROAD GENETIC VARIABILITY OF MECKEL-GRUBER SYNDROME IN THE ARAB POPULATION RESIDING IN NORTH-EAST ISRAEL].
Aalimi U et al.
Harefuah, 2015
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
Iannicelli M et al.
Human Mutation, 2010
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
Doherty D et al.
Journal of Medical Genetics, 2010
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.
Baala L et al.
American Journal of Human Genetics, 2007
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