Articles with "cldn14 collectively" as a keyword



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Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome

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Published in 2017 at "Clinical Genetics"

DOI: 10.1111/cge.12867

Abstract: Perrault syndrome (PS) is a genetically heterogeneous disorder characterized by primary ovarian insufficiency (POI) in females and sensorineural hearing loss in males and females. In many PS subjects, causative variants have not been found in… read more here.

Keywords: perrault syndrome; perrault; cldn14 collectively; sgo2 cldn14 ... See more keywords