DCDC2 -Related Ciliopathy: Report of Six Polish Patients, Novel DCDC2 Variant, and Literature Review of Reported Cases.

Patryk Lipiński,Elżbieta Ciara,Dorota Jurkiewicz,Magda Mekrouda,Joanna Cielecka-Kuszyk,Elżbieta Jurkiewicz,Rafał Płoski,Joanna Pawłowska,Irena Jankowska

Diagnostics (Basel, Switzerland)（2023）

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摘要

Our findings expand the molecular spectrum of pathogenic variants, provide a more accurate picture of the phenotypic expression associated with molecular changes in this gene and confirm a loss of functional behaviour as the mechanism of disease.

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关键词

novel dcdc2-related variant,polish patients

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