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Journal of Genetic Disorders and Genetic Medicine

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Perrault syndrome: One, none or a thousand diseases?

Author(s): Federica Ruscitti, Lucia Trevisan, Paola Mandich

Perrault syndrome is a rare, genetically heterogeneous, autosomal recessive disorder whose traditional hallmarks are sensorineural hearing loss and ovarian dysgenesis. Its phenotypic spectrum has recently been broadened due to patients’ molecular characterisation. The aim of this review is to recapitulate the state-of-the-art knowledge about Perrault syndrome's clinical presentation and to give clinicians new diagnostic perspectives.