Pathogenic variants in CFAP46, CFAP54, CFAP74, and CFAP221 cause Primary Ciliary Dyskinesia with a defective C1d projection of the central apparatus

K Wohlgemuth, N Hoersting, J Koenig, N T Loges, J Raidt, S George, S Cindric, A Schramm, L Biebach, S Lay, G W Dougherty, H Olbrich, P Pennekamp, B Dworniczak, H Omran · Klinische Pädiatrie · 2025 · Heft 02 · S. S24