About
Contact & Profiles
A5102851225
Research Areas
- Cystic Fibrosis Research Advances
- Neonatal Respiratory Health Research
- Medical Imaging and Pathology Studies
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Protist diversity and phylogeny
- Genetic and Kidney Cyst Diseases
Beijing Children’s Hospital
2024
Capital Medical University
2024
Background: Primary ciliary dyskinesia (PCD) is a rare genomic disorder. The phenotype heterogeneity depends on the genotype. Critical genes mutant like CCNO had severe respiratory disease, while limited data are available until now. Case presentation: We presented patient with neonatal distress at birth, and cough wheeze for 8 years as flows. According to clinical imaging findings, screenings of PCD related showed compound heterozygous mutation CCNO. also overviewed literature CCNO-related...
10.22541/au.170669490.00990984/v1
preprint
EN
Authorea (Authorea)
2024-01-31
10.1016/j.bbrc.2024.150428
article
EN
Biochemical and Biophysical Research Communications
2024-07-20
10.22541/au.173325129.95687153/v1
preprint
EN
Authorea (Authorea)
2024-12-03
Coming Soon ...