Broadening the phenotype of the TWNK gene associated Perrault syndrome

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 coding...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Fekete, Bálint, Pentelényi, Klára, Rudas, Gabor, Gál, Anikó, Grosz, Zoltán, Illés, Anett, Idris, Jimoh, Csukly, Gabor, Domonkos, Andor, Molnar, Maria Judit
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6921552/
https://ncbi.nlm.nih.gov/pubmed/31852434
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0934-4
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