Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family with Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure

Purpose: Primary ciliary dyskinesia (PCD) is a rare genetic disorder manifested with recurrent infections of respiratory tract and infertility. Mutations in more than 20 genes including the Coiled-Coil Domain Containing 40 (CCDC40) gene are associated with PCD. A Chinese proband with a clinical diag...

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Detalles Bibliográficos
Autores principales: Yang, Lin, Banerjee, Santasree, Cao, Jie, Bai, Xiaohong, Peng, Zhijun, Chen, Haixia, Huang, Hui, Han, Peng, Feng, Shunyu, Yi, Na, Song, Xueru, Wu, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5801289/
https://www.ncbi.nlm.nih.gov/pubmed/29456554
http://dx.doi.org/10.3389/fgene.2018.00023

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