<i>DCDC2</i>-Related Ciliopathy: Report of Six Polish Patients, Novel <i>DCDC2</i> Variant, and Literature Review of Reported Cases

<i>DCDC2</i>-Related Ciliopathy: Report of Six Polish Patients, Novel <i>DCDC2</i> Variant, and Literature Review of Reported Cases

Introduction: The increasing usage of NGS technology has enabled the discovery of new causal genes in ciliopathies, including the <i>DCDC2</i> gene. The aim of our study was to present the clinical, pathological and molecular report of six patients (from three unrelated families) with &l...

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Bibliographic Details
Main Authors: Patryk Lipiński, Elżbieta Ciara, Dorota Jurkiewicz, Magda Mekrouda, Joanna Cielecka-Kuszyk, Elżbieta Jurkiewicz, Rafał Płoski, Joanna Pawłowska, Irena Jankowska
Format: Article
Language:English
Published: MDPI AG 2023-05-01
Series:Diagnostics
Subjects:
ciliopathy
<i>DCDC2</i>
cholestasis
liver transplantation
next generation sequencing
Online Access:https://www.mdpi.com/2075-4418/13/11/1917

Internet

https://www.mdpi.com/2075-4418/13/11/1917

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