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Novel Gene Variants Associated with Primary Ciliary Dyskinesia.

Indian journal of pediatrics - 1 Jul 2022

Demir Eksi Durkadin, Yilmaz Elanur, Basaran A Erdem, Erduran Gizem, Nur Banu, Mihci Ercan, Karadag Bulent, Bingol Aysen, Alper Ozgul M

Abstract excerpt

OBJECTIVES: To determine the demographic, clinical, and genetic profile of Turkish Caucasian PCD cases. METHODS: Targeted next-generation sequencing (t-NGS) of 46 nuclear genes was performed in 21 unrelated PCD cases. Sanger sequencing confirmed of potentially disease-related variations, and genotype-phenotype correlations were evaluated. RESULTS: Disease-related variations were identified in eight different...

Topics

Cohort Studies
Genetic Association Studies
High-Throughput Nucleotide Sequencing
Humans
Kartagener Syndrome
Mutation

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 35239159
DOI: 10.1007/s12098-022-04098-z

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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