Case report
Open access
Oct 2026
Variants in CEP135 Cause Congenital Microcephaly and Primary Ciliary Dyskinesia.
INTRODUCTION Primary ciliary dyskinesia (PCD), a disorder of motile ciliary dysfunction causing chronic respiratory infections, may also rarely present with aspects of non-motile ciliary dysfunction, including retinitis, central nervous system malformations, skeletal dysplasia, and sensorineural hearing loss. However,...
A. Bergman-Sieger, Marc-André Turcot, L. E. Ostrowski et al.
· Pediatric Pulmonology · 0 citations