Article
Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome.
Journal of translational medicine - 8 Feb 2017
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
Abstract excerpt
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 symbol C10orf2) cause the autosomal recessive disorder but they are found only in about half of the patients....
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