Neonatal diagnosis of primary ciliary dyskinesia in a high consanguinity population: a single tertiary center experience
Author:
Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s00431-024-05574-8.pdf
Reference18 articles.
1. Rubbo B, Lucas JS (2017) Clinical care for primary ciliary dyskinesia: current challenges and future directions. Eur Respir Rev 26(145):170023
2. Ferkol TW, Puffenberger EG, Lie H et al (2013) Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities. J Pediatr 163:383–387
3. Casey JP, McGettigan PA, Healy F et al (2015) Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population. Eur J Hum Genet 23:210–217
4. Lucas JS, Davis SD, Omran H, Shoemark A (2020) Primary ciliary dyskinesia in the genomics age. Lancet Respir Med 8(2):202–216. https://doi.org/10.1016/S2213-2600(19)30374-1. Epub 2019 Oct 14 PMID: 31624012
5. Hannah WB, Seifert BA, Truty R, Zariwala MA, Ameel K, Zhao Y, Nykamp K, Gaston B (2022) The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis. Lancet Respir Med 10(5):459–468
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