Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in Oral-Facial-Digital Syndrome Gene, OFD1

Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in Oral-Facial-Digital Syndrome Gene, OFD1

Primary ciliary dyskinesia (PCD) is a hereditary disease caused by genes related to motile cilia. We report two male pediatric cases of PCD caused by hemizygous pathogenic variants in the OFD1 centriole and centriolar satellite protein (OFD1) gene. The variants were NM_003611.3: c.[2789_2793delTAAAA...

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Main Authors: Yifei Xu, Yuki Tsurinaga, Tsubasa Matsumoto, Ryuji Muta, Taichi Yano, Hiroshi Sakaida, Sawako Masuda, Koki Ueda, Guofei Feng, Shimpei Gotoh, Satoru Ogawa, Makoto Ikejiri, Kaname Nakatani, Mizuho Nagao, Masaki Tanabe, Kazuhiko Takeuchi
Format: Article
Language:English
Published: Wiley 2024-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2024/1595717
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http://dx.doi.org/10.1155/2024/1595717

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