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Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation.

Autor: Kos R; Department of Respiratory Medicine, Amsterdam University Medical Centers - locatie AMC, Amsterdam, The Netherlands., Israëls J; Department of Pediatric Respiratory Medicine and Allergy, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, The Netherlands., van Gogh CDL; Department of Otolaryngology, Head and Neck Surgery, Amsterdam University Medical Centers - locatie VUmc, Amsterdam, The Netherlands., Altenburg J; Department of Respiratory Medicine, Amsterdam University Medical Centers - locatie AMC, Amsterdam, The Netherlands., Diepenhorst S; Department of Pediatric Respiratory Medicine and Allergy, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Paff T; Department of Pediatric Respiratory Medicine and Allergy, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Boon EMJ; Department of Human Genetics, Amsterdam University Medical Centers - locatie VUmc, Amsterdam, The Netherlands., Micha D; Department of Human Genetics, Amsterdam University Medical Centers - locatie VUmc, Amsterdam, The Netherlands., Pals G; Department of Human Genetics, Amsterdam University Medical Centers - locatie VUmc, Amsterdam, The Netherlands., Neerincx AH; Department of Respiratory Medicine, Amsterdam University Medical Centers - locatie AMC, Amsterdam, The Netherlands., Maitland-van der Zee AH; Department of Respiratory Medicine, Amsterdam University Medical Centers - locatie AMC, Amsterdam, The Netherlands.; Department of Pediatric Respiratory Medicine and Allergy, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Haarman EG; Department of Pediatric Respiratory Medicine and Allergy, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, The Netherlands.

Publikováno v: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2022 Mar; Vol. 190 (1), pp. 89-101. Date of Electronic Publication: 2022 Mar 27.