References
Evers SE, Rand CG. Morbidity in Canadian Indian and non-Indian children in the first
year of life. Can Med Assoc J. 1982;126(3):249-252.
  1. Das L, Kovesi TA. Bronchiectasis in children from Qikiqtani (Baffin) Region, Nunavut, Canada. Ann Am Thorac Soc. 2015;12(1):96-100.
  2. Hunter-Schouela J, Geraghty MT, Hegele RA, et al. First reports of Primary Ciliary Dyskinesia caused by a shared DNAH11 allele in Canadian Inuit. Pediatr Pulmonol . 2023; Online ahead of print
  3. Chapelin C, Duriez N, Magnino F, et al Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment. FEBS Lett . 1997; 412: 325-330.
  4. Hannah WB, Seifert BA, Truty R, et al. The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis. Lancet Respir Med.2022;10(5):459-468.
  5. Legendre M, Zaragosi LE, Mitchison HM. Motile cilia and airway disease. Seminars in Cell and Developmental Biology 2021; 110:19–33.
  6. Zariwala MA, Leigh MW, Ceppa F, et al. Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. Am J Respir Crit Care Med . 2006; 174(8):858-66.
  7. Daniels ML, Leigh MW, Davis SD, et al. Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia. Hum Mutat . 2013;34(10):1352-1356.
  8. Keicho N, Hijikata M, Morimoto K, et al. Primary ciliary dyskinesia caused by a large homozygous deletion including exons 1-4 of DRC1 in Japanese patients with recurrent sinopulmonary infection.Mol Genet Genomic Med . 2020 Jan;8(1):e1033.
  9. De Jesús-Rojas W, Reyes-De Jesús D, Mosquera RA. Primary Ciliary Dyskinesia Diagnostic Challenges: Understanding the Clinical Phenotype of the Puerto Rican RSPH4A Founder Mutation.Diagnostics (Basel). 2021; 11(2):281. 11. Kim MJ, Kim S, Chae SW et al. Prevalence and founder effect of DRC1 exon 1-4 deletion in Korean patients with primary ciliary dyskinesia. J Hum Genet 2023; Online ahead of print. 12. Mabrouk I, Al-Harthi N, Mani R, et al. Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients. J Hum Genet . 2022; 67(7):381-386. 13. D’Angelo CS, Hermes A, McMaster CR, et al. Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations.Front. Pediatr . 2020; 8:579924.