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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Bibliographic Details
Published in:	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
Format:	Artigo
Language:	Inglês
Published:	BioMed Central 2017
Subjects:	Research
Online Access:	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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Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome

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