Article

Genetic Analysis of Gorlin Syndrome Using a Multiplex PCR Gene Panel, and Its Potential Clinical Utility for Liquid Biopsy

2021-07-13

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Gorlin syndrome is an autosomal dominant, rare disease caused by mutations in <italic>PTCH1</italic>, <italic>PTCH2</italic>, and <italic>SUFU</italic> with various symptoms in multiple organs making early diagnosis challenging. In this study, we generated a Gorlin syndrome gene panel that could help to overcome the difficulties in diagnosing Gorlin syndrome usi...

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Literature Corpus work: 3b1fc677-5157-5896-8134-9daa2ac773c5
DOI: 10.21203/rs.3.rs-676760/v1

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