Phenotype–genotype associations in primary ciliary dyskinesia: where do we stand?
Author:
Funder
Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung
Publisher
European Respiratory Society (ERS)
Subject
Pulmonary and Respiratory Medicine
Reference30 articles.
1. Topological data analysis reveals genotype–phenotype relationships in primary ciliary dyskinesia
2. Factors influencing age at diagnosis of primary ciliary dyskinesia in European children
3. Lucas JS , Walker WT , Kuehni CE , et al. Primary ciliary dyskinesia. In: Courdier J-F, ed. Orphan Lung Diseases (ERS Monograph). Sheffield, European Respiratory Society, 2011; pp. 201–2017.
4. Mutations in C11orf70 cause primary ciliary dyskinesia with randomisation of left/right body asymmetry due to defects of outer and inner dynein arms;Höben;Am J Human Genet,2018
5. X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
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