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