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

• Hoofdauteurs: Maria Teresa Carminho-Rodrigues (Auteur), Phillipe Klee (Auteur), Sacha Laurent (Auteur), Michel Guipponi (Auteur), Marc Abramowicz (Auteur), Hélène Cao-van (Auteur), Nils Guinand (Auteur), Ariane Paoloni-Giacobino (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2020-05-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: 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...