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Article

Unveiling the genetic etiology of primary ciliary dyskinesia: When standard genetic approach is not enough.

Advances in medical sciences - 1 Mar 2020

Pereira Rute, Barbosa Telma, Alves Ângela, Santos Rosário, Oliveira Jorge, Sousa Mário

Abstract excerpt

PURPOSE: Primary ciliary dyskinesia (PCD) is a ciliopathy caused by dysfunction of motile cilia. As there is still no standard PCD diagnostics, the final diagnosis requires a combination of several tests. The genetic screening is a hallmark for the final diagnosis and requires high-throughput techniques, such as whole-exome sequencing (WES). Nevertheless, WES has limitations that may prevent a definitive genetic...

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PMID: 31835165
DOI: 10.1016/j.advms.2019.10.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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