Associated Papers
Novel Compound Heterozygous Variants in the TCTN2 Gene Causing Meckel-Gruber Syndrome 8 in a Non-Consanguineous Chinese Family.
Yang Q et al.
Molecular Genetics & Genomic Medicine, 2025
Two novel TCTN2 mutations cause Meckel-Gruber syndrome.
Zhang M et al.
Journal of Human Genetics, 2020
Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome.
Shi X et al.
Nature Cell Biology, 2017
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