Concepedia

Clinical and molecular characteristics of primary ciliary dyskinesia

Mohammed Alzaid, Khalid Al-Mobaireek, Mohammed Almannai, Gawahir Mukhtar, Safa Eltahir, Adnan Zafar, Abdulali P. Zada, Wadha Alotaibi

International Journal of Pediatrics and Adolescent Medicine · 2021 · 10 citations · 26 references

DOIFull text

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Abstract

We describe the clinical and molecular characteristics of patients with confirmed PCD in a tertiary centre in Saudi Arabia and report 9 new pathogenic or likely pathogenic variants in one of the PCD-associated genes.

References

26

Primary Ciliary Dyskinesia

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European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

Jane S. Lucas, Angelo Barbato, Samuel A. Collins et al. · European Respiratory Journal · 2016 · 678 citations · Full text

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Factors influencing age at diagnosis of primary ciliary dyskinesia in European children

Claudia E. Kuehni, T. Frischer, Marie‐Pierre F. Strippoli et al. · European Respiratory Journal · 2010 · 360 citations · Full text

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DYX1C1 is required for axonemal dynein assembly and ciliary motility

Nature Genetics · 2013 · 291 citations · Full text

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Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

Hannah M. Mitchison, Miriam Schmidts, Niki T. Loges et al. · Nature Genetics · 2012 · 279 citations

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