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

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 comprehensive...

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Pubblicato in:Mol Genet Genomic Med
Autori principali: Morimoto, Kozo, Hijikata, Minako, Zariwala, Maimoona A., Nykamp, Keith, Inaba, Atsushi, Guo, Tz‐Chun, Yamada, Hiroyuki, Truty, Rebecca, Sasaki, Yuka, Ohta, Ken, Kudoh, Shoji, Leigh, Margaret W., Knowles, Michael R., Keicho, Naoto
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2019
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Original Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6687623/
https://ncbi.nlm.nih.gov/pubmed/31270959
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.838
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