Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation.
Kos R, Israëls J, van Gogh CDL, Altenburg J, Diepenhorst S, Paff T, Boon EMJ, Micha D, Pals G, Neerincx AH, et al. Am J Med Genet C Semin Med Genet. 2022 Mar; 190(1):89-101. Epub 2022 Mar 27.