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Article

Identification and Classification of Novel Genetic Variants: En Route to the Diagnosis of Primary Ciliary Dyskinesia.

International journal of molecular sciences - 17 Aug 2021

Stevanovic Nina, Skakic Anita, Minic Predrag, Sovtic Aleksandar, Stojiljkovic Maja, Pavlovic Sonja, Andjelkovic Marina

Abstract excerpt

Primary ciliary dyskinesia (PCD) is a disease caused by impaired function of motile cilia. PCD mainly affects the lungs and reproductive organs. Inheritance is autosomal recessive and X-linked. PCD patients have diverse clinical manifestations, thus making the establishment of proper diagnosis challenging. The utility of next-generation sequencing (NGS) technology for diagnostic purposes allows for better...

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PMID: 34445527
DOI: 10.3390/ijms22168821
PMCID: PMC8396207

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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