Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome

BACKGROUND: Hearing loss and ovarian dysfunction are key features of Perrault syndrome (PRLTS) but the clinical and pathophysiological features of hearing impairment in PRLTS individuals have not been addressed. Mutations in one of five different genes HSD17B4, HARS2, LARS2, CLPP or TWNK (previous s...

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Detalles Bibliográficos
Autores principales: Ołdak, Monika, Oziębło, Dominika, Pollak, Agnieszka, Stępniak, Iwona, Lazniewski, Michal, Lechowicz, Urszula, Kochanek, Krzysztof, Furmanek, Mariusz, Tacikowska, Grażyna, Plewczynski, Dariusz, Wolak, Tomasz, Płoski, Rafał, Skarżyński, Henryk
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5299684/
https://www.ncbi.nlm.nih.gov/pubmed/28178980
http://dx.doi.org/10.1186/s12967-017-1129-4

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