Associated Papers
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
Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report.
Bui TPH et al.
Bmc Medical Genetics, 2020
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
Iannicelli M et al.
Human Mutation, 2010
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