Article
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.
Human genetics - 1 Apr 2022
Faridi Rabia, Rea Alessandro, Fenollar-Ferrer Cristina, O'Keefe Raymond T, Gu Shoujun, Munir Zunaira, Khan Asma Ali, Riazuddin Sheikh, Hoa Michael, Naz Sadaf, Newman William G, Friedman Thomas B
Abstract excerpt
Hearing loss and impaired fertility are common human disorders each with multiple genetic causes. Sometimes deafness and impaired fertility, which are the hallmarks of Perrault syndrome, co-occur in a person. Perrault syndrome is inherited as an autosomal recessive disorder characterized by bilateral mild to severe childhood sensorineural hearing loss with variable age of onset in both sexes and ovarian...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.