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
Tectonic Proteins Are Important Players in Non-Motile Ciliopathies.
Gong S et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2018
Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome.
Shi X et al.
Nature Cell Biology, 2017
Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia.
Juric-Sekhar G et al.
Acta Neuropathologica, 2012
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