Associated Papers
Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report.
Bui TPH et al.
Bmc Medical Genetics, 2020
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome.
Brancati F et al.
European Journal of Human Genetics : Ejhg, 2018
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
Halbritter J et al.
Human Genetics, 2013
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