Article
Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes.
Human genomics - 22 Oct 2022
Chen Weicheng, Wang Feifei, Zeng Weijia, Zhang Xinyan, Shen Libing, Zhang Yuan, Zhou Xiangyu
Abstract excerpt
BACKGROUND: Abnormalities in cilia ultrastructure and function lead to a range of human phenotypes termed ciliopathies. Many tetratricopeptide repeat domain (TTC) family members have been reported to play critical roles in cilium organization and function. RESULTS: Here, we describe five unrelated family trios with multisystem ciliopathy syndromes, including situs abnormality, complex congenital heart disease,...
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