44 2033180199
All submissions of the EM system will be redirected to Online Manuscript Submission System. Authors are requested to submit articles directly to Online Manuscript Submission System of respective journal.
Journal of Genetic Disorders and Genetic Medicine

Sign up for email alert when new content gets added: Sign up

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.


PDF
 

44-7452-259145

Top