Article

Pathogenic REST variant causing Jones syndrome and a review of the literature

2022-09-13

Abstract excerpt

<title>Abstract</title> <p>Jones syndrome is a rare dominantly inherited syndrome characterized by gingival fibromatosis and progressive sensorineural hearing loss becoming symptomatic in the second decade of life. Here, we report a father and his two daughters presenting with a typical Jones syndrome phenotype. Exome sequencing identified a repressor element 1-silencing transcription factor (<italic>REST)</itali...

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Literature Corpus work: 5c9bbebd-b5ab-570e-b4ef-45269ffb5667
DOI: 10.21203/rs.3.rs-2007051/v1

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