Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes

Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes

Abstract 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 unre...

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Bibliographic Details
Main Authors: Weicheng Chen, Feifei Wang, Weijia Zeng, Xinyan Zhang, Libing Shen, Yuan Zhang, Xiangyu Zhou
Format: Article
Language:English
Published: BMC 2022-10-01
Series:Human Genomics
Subjects:
Situs inversus
Heterotaxy
Congenital heart disease
Nephronophthisis
Neonatal cholestasis
Ciliopathy
Online Access:https://doi.org/10.1186/s40246-022-00421-z

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