Case report
Open access
Oct 2026
Variants in CEP135 Cause Congenital Microcephaly and Primary Ciliary Dyskinesia
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, congenital mi...
A. Bergman-Sieger, Marc-André Turcot, L. E. Ostrowski et al.
· Pediatric Pulmonology · 0 citations