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September 23, 2024Medicine and Pharmacy ReportsOpen Access

Primary ciliary dyskinesia: a case report of double DNAH11 mutant alleles

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Authors

LPLorin-Manuel PîrlogAPAndrada-Adelaida PătrășcanuEKEnikő Kutasi

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Cite This Study

Pîrlog et al. (2024) studied this question.

synapsesocial.com/papers/68e57adfb6db64358751a2b0https://doi.org/10.15386/mpr-2743
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1C61-06 Heterozygous Mutation in the CCDC40 and DNAH8 Gene Causing Phenotypical Manifestations of Primary Ciliary Dyskinesia: A Case Report2026
  2. 2Clinical, Genetic, Morphological and Functional Correlations in a Large Series of Patients with Primary Ciliary Dyskinesia: A Heterogeneous Disease with a Controversial Diagnosis2025 · 4 citations
  3. 3Variants in the DNAH11 gene responsible for primary ciliary dyskinesia or probably atypical primary ciliary dyskinesia presenting left-right asymmetry disorder2026
  4. 4Primary ciliary dyskinesia: current state of the art2007 · 350 citations
  5. 5Proteomic and structural comparison between cilia from primary ciliary dyskinesia patients with a DNAH5 defect2025 · 5 citations