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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Detalhes bibliográficos
Publicado no:J Transl Med
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5299684/
https://ncbi.nlm.nih.gov/pubmed/28178980
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12967-017-1129-4
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