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Article

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

BMC medical genetics - 18 May 2020

Carminho-Rodrigues Maria Teresa, Klee Phillipe, Laurent Sacha, Guipponi Michel, Abramowicz Marc, Cao-van Hélène, Guinand Nils, Paoloni-Giacobino Ariane

Abstract excerpt

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 LARS2. To date, 19 variants have been reported in 18 individuals with LARS2-Perrault syndrome. CASE PRESENTATION: Here we...

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Identifiers

PMID: 32423379
DOI: 10.1186/s12881-020-01028-8
PMCID: PMC7236518

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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