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

• Main Authors: Maria Teresa Carminho-Rodrigues (Author), Phillipe Klee (Author), Sacha Laurent (Author), Michel Guipponi (Author), Marc Abramowicz (Author), Hélène Cao-van (Author), Nils Guinand (Author), Ariane Paoloni-Giacobino (Author)
• Format: Book
• Published: BMC, 2020-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background 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 genes have been identified: HARS2, HSD17B4, CLLP, C10orf, ERAL1, TWNK and...