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

• Asıl Yazarlar: Maria Teresa Carminho-Rodrigues (Yazar), Phillipe Klee (Yazar), Sacha Laurent (Yazar), Michel Guipponi (Yazar), Marc Abramowicz (Yazar), Hélène Cao-van (Yazar), Nils Guinand (Yazar), Ariane Paoloni-Giacobino (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2020-05-01T00:00:00Z.
• Konular: article
• Online Erişim: 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...