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

Morimoto, K; Hijikata, M; Zariwala, MA; Nykamp, K; Inaba, A; Guo, TC; Yamada, H; Truty, R; Sasaki, Y; Ohta, K; Kudoh, S; Leigh, MW; Knowles, MR; Keicho, N

Morimoto, K (reprint author), Japan Antitb Assoc, Fukujuji Hosp, 3-1-24 Matsuyama, Kiyose, Tokyo 2048522, Japan.

MOLECULAR GENETICS & GENOMIC MEDICINE, 2019; 7 (8):

Abstract

Background Primary ciliary dyskinesia (PCD) is a relatively rare autosomal recessive or X-linked disorder affecting ciliary function. In the set of ca......

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