Guofei Feng Yifei Xu Shun Saso Hajime Sasano Shigeto Kondoh Hidetoshi Itani Shimpei Gotoh Mizuho Nagao Makoto Ikejiri Masaki Tanabe Kazuhiko Takeuchi
10.2169/internalmedicine.8884-21
Intern Med
2022;61(18):2765-2769.
gas2l2 bronchiectasis gene primary ciliary dyskinesia whole-exome sequencing
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/36104176/
Bronchiectasis / diagnostic imaging Bronchiectasis / genetics Ciliary Motility Disorders / diagnostic imaging Ciliary Motility Disorders / genetics Situs Inversus
Bronchiectasis / diagnostic imaging Bronchiectasis / genetics Ciliary Motility Disorders / diagnostic imaging Ciliary Motility Disorders / genetics Situs Inversus Case Reports Female Humans Microfilament Proteins Microtubule-Associated Proteins / genetics Siblings Tomography, X-Ray Computed GAS2L2 protein, human Microfilament Proteins Microtubule-Associated Proteins
PMC9556235
36104176
A Novel Homozygous Variant in GAS2L2 in Two Sisters with Primary Ciliary Dyskinesia
2022