Clinical, phenotype and genotype correlations in primary ciliary dyskinesia suspected children in Egypt

Genetic testing confirmed PCD in 50.7% of cases; based on published TEM-detectable ultrastructural defects, only 40.5% would likely have been detectable by TEM alone, highlighting the need for advanced diagnostics.

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Publication Details

Journal
Frontiers in Molecular Biosciences
Published
2025-09-26
DOI
https://doi.org/10.3389/fmolb.2025.1641739
Primary Topic
Cystic Fibrosis Research Advances
Type
article
Field-Weighted Citation Impact
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article

Clinical, phenotype and genotype correlations in primary ciliary dyskinesia suspected children in Egypt

Heymut Omran, Rim Hjeij, Heike Olbrich, Tarek El-Desoky et al.
Frontiers in Molecular Biosciences
Cystic Fibrosis Research Advances
article

Clinical, phenotype and genotype correlations in primary ciliary dyskinesia suspected children in Egypt

Heymut Omran, Rim Hjeij, Heike Olbrich, Tarek El-Desoky, Dominik J. Otto, Mohammad Al-Haggar, Bernd Dworniczak, Engy Osman, Hoda Rizk
article en

Abstract

Genetic testing confirmed PCD in 50.7% of cases; based on published TEM-detectable ultrastructural defects, only 40.5% would likely have been detectable by TEM alone, highlighting the need for advanced diagnostics.

Frontiers in Molecular BiosciencesVol. 12
Mansoura University (EG), Accadis Hochschule Bad Homburg (DE), University Hospital Münster (DE)
Openalex Percentile: Top 62%
Cystic Fibrosis Research Advances
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