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

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 f...

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Detalles Bibliográficos
Autores principales: Chen, Weicheng, Wang, Feifei, Zeng, Weijia, Zhang, Xinyan, Shen, Libing, Zhang, Yuan, Zhou, Xiangyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9587637/
https://www.ncbi.nlm.nih.gov/pubmed/36273201
http://dx.doi.org/10.1186/s40246-022-00421-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9587637/
https://www.ncbi.nlm.nih.gov/pubmed/36273201
http://dx.doi.org/10.1186/s40246-022-00421-z

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