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Two Distinct Clinical Presentations of Primary Ciliary Dyskinesia (PCD): Diagnostic Utility of Whole-Exome Sequencing in a Genetically Heterogeneous Disorder
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| Published in: | Application of Clinical Genetics |
|---|---|
| Format: | Online Article RSS Article |
| Published: |
2026
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| _version_ | 1867301675812782081 |
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| collection | WordPress RSS FRELIP Feed Integration |
| container_title | Application of Clinical Genetics |
| description | |
| discipline_display | Medical Geneticsx |
| discipline_facet | Medical Geneticsx |
| format | Online Article RSS Article |
| genre | Journal Article |
| id | rss_article:62473 |
| institution | FRELIP |
| journal_source_facet | Application of Clinical Genetics |
| publishDate | 2026 |
| publishDateSort | 2026 |
| record_format | rss_article |
| spellingShingle | Two Distinct Clinical Presentations of Primary Ciliary Dyskinesia (PCD): Diagnostic Utility of Whole-Exome Sequencing in a Genetically Heterogeneous Disorder Medical Geneticsx General Medical Geneticsx |
| sub_discipline_display | General |
| sub_discipline_facet | General |
| subject_display | Medical Geneticsx General Medical Geneticsx Medical Geneticsx General Medical Geneticsx |
| subject_facet | Medical Geneticsx General Medical Geneticsx |
| title | Two Distinct Clinical Presentations of Primary Ciliary Dyskinesia (PCD): Diagnostic Utility of Whole-Exome Sequencing in a Genetically Heterogeneous Disorder |
| title_auth | Two Distinct Clinical Presentations of Primary Ciliary Dyskinesia (PCD): Diagnostic Utility of Whole-Exome Sequencing in a Genetically Heterogeneous Disorder |
| title_full | Two Distinct Clinical Presentations of Primary Ciliary Dyskinesia (PCD): Diagnostic Utility of Whole-Exome Sequencing in a Genetically Heterogeneous Disorder |
| title_fullStr | Two Distinct Clinical Presentations of Primary Ciliary Dyskinesia (PCD): Diagnostic Utility of Whole-Exome Sequencing in a Genetically Heterogeneous Disorder |
| title_full_unstemmed | Two Distinct Clinical Presentations of Primary Ciliary Dyskinesia (PCD): Diagnostic Utility of Whole-Exome Sequencing in a Genetically Heterogeneous Disorder |
| title_short | Two Distinct Clinical Presentations of Primary Ciliary Dyskinesia (PCD): Diagnostic Utility of Whole-Exome Sequencing in a Genetically Heterogeneous Disorder |
| title_sort | two distinct clinical presentations of primary ciliary dyskinesia (pcd): diagnostic utility of whole-exome sequencing in a genetically heterogeneous disorder |
| topic | Medical Geneticsx General Medical Geneticsx |
| url | https://www.dovepress.com/two-distinct-clinical-presentations-of-primary-ciliary-dyskinesia-pcd--peer-reviewed-fulltext-article-TACG |