Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients

Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients

Abstract Background Primary ciliary dyskinesia (PCD) is a relatively rare autosomal recessive or X‐linked disorder affecting ciliary function. In the set of causative genes, however, predominant pathogenic variants remain unknown in Asia. Method A diagnosis of PCD was made following a modern compreh...

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Bibliographic Details
Main Authors: Kozo Morimoto, Minako Hijikata, Maimoona A. Zariwala, Keith Nykamp, Atsushi Inaba, Tz‐Chun Guo, Hiroyuki Yamada, Rebecca Truty, Yuka Sasaki, Ken Ohta, Shoji Kudoh, Margaret W. Leigh, Michael R. Knowles, Naoto Keicho
Format: Article
Language:English
Published: Wiley 2019-08-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Asia
diffuse panbronchiolitis
DRC1
primary ciliary dyskinesia
recurrent mutation
Online Access:https://doi.org/10.1002/mgg3.838

Internet

https://doi.org/10.1002/mgg3.838

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