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Scientific article
Case report
Open access
English

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

Published inBMC Medical Genetics, vol. 21, no. 1, 109
Publication date2020
Abstract

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 LARS2. To date, 19 variants have been reported in 18 individuals with LARS2-Perrault syndrome.

Keywords
  • Surdité
  • Génétique
Citation (ISO format)
CARMINHO AMARO RODRIGUES, Maria Teresa et al. LARS2-Perrault syndrome: a new case report and literature review. In: BMC Medical Genetics, 2020, vol. 21, n° 1, p. 109. doi: 10.1186/s12881-020-01028-8
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Article (Published version)
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ISSN of the journal1471-2350
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Technical informations

Creation06/10/2020 11:03:00 AM
First validation06/10/2020 11:03:00 AM
Update time03/15/2023 10:08:48 PM
Status update03/15/2023 10:08:47 PM
Last indexation02/12/2024 11:52:12 AM
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