The cause of Jones syndrome put to REST: a mutation in the REST gene causes gingival fibromatosis and hearing loss

Author:

Nakano Yoko,Bánfi BotondORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference15 articles.

1. Jones G, Wilroy RS Jr, McHaney V. Familial gingival fibromatosis associated with progressive deafness in five generations of a family. Birth Defects Orig Artic Ser. 1977;13:195–201.

2. Hartsfield JK Jr, Bixler D, Hazen RH. Gingival fibromatosis with sensorineural hearing loss: an autosomal dominant trait. Am J Med Genet. 1985;22:623–7.

3. Kasaboğlu O, Tümer C, Balci S. Hereditary gingival fibromatosis and sensorineural hearing loss in a 42-year-old man with Jones syndrome. Genet Couns. 2004;15:213–8.

4. Rahikkala E, Julku J, Koskinen S, Keski-Filppula T, Weissgraeber S, Bertoli-Avella AM, et al. Pathogenic REST variant causing Jones syndrome and a review of the literature. Eur J Hum Genet. 2022. https://doi.org/10.1038/s41431-022-01258-9.

5. Ballas N, Mandel G. The many faces of REST oversee epigenetic programming of neuronal genes. Curr Opin Neurobiol. 2005;15:500–6.

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1. April, again;European Journal of Human Genetics;2023-04

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