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Evaluation of the Clinical and Genetic Characteristics of Primary Ciliary Dyskinesia Patients With Situs Inversus Totalis.

Birth defects research - 1 Feb 2025

Kahraman Feyza Ustabas, Jafarov Uzeyir, Yazan Hakan, Yurtsever Ismail, Cakir Erkan, Sayin Gozde Yesil

Abstract excerpt

BACKGROUND: Situs inversus totalis (SIT) is present in approximately 40%-50% of patients with primary ciliary dyskinesia (PCD). We evaluated the relationships between novel genetic results and the clinical and radiological characteristics of PCD patients with SIT. METHODS: The study included 48 patients diagnosed with PCD and SIT. Demographic and clinical features, disease-related scores (Bhalla, Primary Ciliary...

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Identifiers

PMID: 39902670
DOI: 10.1002/bdr2.2444

Genes

DNAH5
CCDC39

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