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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Transl Med
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2017
Pynciau:
Research
Mynediad Ar-lein: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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