LARS2-Perrault syndrome: a new case report and literature review

Perrault syndrome is a rare recessive and genetically heterogeneous disorder characterized by sensorineural hearing loss in males and females and gonadal dysgenesis in females. Mutations in seven different gen...

Source: BMC Medical Genetics - May 18, 2020 Category: Genetics & Stem Cells Authors: Maria Teresa Carminho-Rodrigues, Phillipe Klee, Sacha Laurent, Michel Guipponi, Marc Abramowicz, H élène Cao-van, Nils Guinand and Ariane Paoloni-Giacobino Tags: Case report Source Type: research