DCDC2-Related Ciliopathy: Report of Six Polish Patients, Novel DCDC2 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 DCDC2 gene. The aim of our study was to present the clinical, pathological and molecular report of six patients (from three unrelated families) with DCDC2 biallelic patho...

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Detalles Bibliográficos
Autores principales: Lipiński, Patryk, Ciara, Elżbieta, Jurkiewicz, Dorota, Mekrouda, Magda, Cielecka-Kuszyk, Joanna, Jurkiewicz, Elżbieta, Płoski, Rafał, Pawłowska, Joanna, Jankowska, Irena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10252754/
https://www.ncbi.nlm.nih.gov/pubmed/37296768
http://dx.doi.org/10.3390/diagnostics13111917

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10252754/
https://www.ncbi.nlm.nih.gov/pubmed/37296768
http://dx.doi.org/10.3390/diagnostics13111917

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