Associated Papers
Association of novel TMEM67 variants with mild phenotypes of high gamma-glutamyl transpeptidase cholestasis and congenital hepatic fibrosis.
Qiu YL et al.
Journal of Cellular Physiology, 2022
Comprehensive strategy improves the genetic diagnosis of different polycystic kidney diseases.
Hu HY et al.
Journal of Cellular and Molecular Medicine, 2021
Molecular Diagnosis and Prenatal Phenotype Analysis of Eight Fetuses With Ciliopathies.
Liu Y et al.
Frontiers in Genetics, 2021
34675960 (PubMed )
Supplement: Table1.XLSX › Sheet1
[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
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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