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Article

Perrault syndrome: Clinical report and retrospective analysis.

Molecular genetics & genomic medicine - 1 Oct 2020

Pan Zhaoyu, Xu Hongen, Tian Yongan, Liu Danhua, Liu Huanfei, Li Ruijun, Dou Qian, Zuo Bin, Zhai Rongqun, Tang Wenxue, Lu Wei

Abstract excerpt

BACKGROUND: Perrault syndrome (PRLTS4; OMIM# 615300) is a rare autosomal recessive disorder and only a few cases have been reported worldwide. We report a Chinese female characterized by sensorineural hearing loss and premature ovarian insufficiency. METHODS: We evaluated audiological, endocrine, and ultrasound examinations and examined the genetic causes using whole-exome sequencing. We reviewed the literature...

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Topics

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Share to Amino Acyl-tRNA Synthetases
Share to Hearing Loss, Sensorineural

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mutation, Missense

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Share to Young Adult

Source

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Identifiers

PMID: 32767731
DOI: 10.1002/mgg3.1445
PMCID: PMC7549576

Genes

LARS2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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