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Article

Prenatally detected encephalocele associated with a novel pathogenic TCTN3 variant: A case report and literature review.

American journal of medical genetics. Part A - 1 Jun 2022

Huljev Frković Sanda, Vičić Ana, Crkvenac Gornik Kristina, Kulišić Dinko, Stipoljev Feodora

Abstract excerpt

Primary cilia are a component of almost all vertebrate cells with a crucial role in sensing and transducing environmental signals during tissue development. Their dysfunction is known as ciliopathies and can manifest with a wide spectrum of clinical disorders. Overlapping features and molecular heterogeneity of ciliopathies make diagnoses distinctly challenging. In this group of diseases, tectonic genes, and...

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PMID: 35170189
DOI: 10.1002/ajmg.a.62684

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