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

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

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...

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Bibliographic Details
Main Authors: Maria Teresa Carminho-Rodrigues, Phillipe Klee, Sacha Laurent, Michel Guipponi, Marc Abramowicz, Hélène Cao-van, Nils Guinand, Ariane Paoloni-Giacobino
Format: Article
Language:English
Published: BMC 2020-05-01
Series:BMC Medical Genetics
Subjects:
Perrault syndrome
LARS2
Whole-exome sequencing
Sensorineural hearing loss
Online Access:http://link.springer.com/article/10.1186/s12881-020-01028-8

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