Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a <scp> <i>CCDC114</i> </scp> mutation-Reference-Cited by-同舟云学术

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

Published:2022-03 Issue:1 Volume:190 Page:89-101
ISSN:1552-4868
Container-title:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
language:en
Short-container-title:American J of Med Genetics Pt C

Author:

Kos Renate¹^ORCID,Israëls Joël²^ORCID,Gogh Christine D. L.³,Altenburg Josje¹,Diepenhorst Sandra²,Paff Tamara²,Boon Elles M. J.⁴,Micha Dimitra⁴,Pals Gerard⁴,Neerincx Anne H.¹,Maitland‐van der Zee Anke H.¹²,Haarman Eric G.²,

Affiliation:

1. Department of Respiratory Medicine Amsterdam University Medical Centers – locatie AMC Amsterdam The Netherlands

2. Department of Pediatric Respiratory Medicine and Allergy Emma Children's Hospital, Amsterdam University Medical Centers Amsterdam The Netherlands

3. Department of Otolaryngology, Head and Neck Surgery Amsterdam University Medical Centers – locatie VUmc Amsterdam The Netherlands

4. Department of Human Genetics Amsterdam University Medical Centers – locatie VUmc Amsterdam The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.31968

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1. A longitudinal evaluation of hearing and ventilation tube insertion in patients with primary ciliary dyskinesia

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