Broadening the phenotype of the TWNK gene associated Perrault syndrome

Broadening the phenotype of the TWNK gene associated Perrault syndrome

Abstract Background Perrault syndrome is a genetically heterogenous, very rare disease, characterized clinically by sensorineural hearing loss, ovarian dysfunction and neurological symptoms. We present the case of a 33 years old female patient with TWNK-associated Perrault syndrome. The TWNK gene is...

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Bibliographic Details
Main Authors: Bálint Fekete, Klára Pentelényi, Gabor Rudas, Anikó Gál, Zoltán Grosz, Anett Illés, Jimoh Idris, Gabor Csukly, Andor Domonkos, Maria Judit Molnar
Format: Article
Language:English
Published: BMC 2019-12-01
Series:BMC Medical Genetics
Subjects:
Perrault syndrome
TWNK
Hyperintense cerebellar signal
Spastic ataxia
Online Access:https://doi.org/10.1186/s12881-019-0934-4

Internet

https://doi.org/10.1186/s12881-019-0934-4

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