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Article

LARS2-Related Perrault Syndrome in Siblings With 46,XY Differences of Sex Development.

American journal of medical genetics. Part A - 1 Aug 2025

Adam Aaron P, O'Sullivan Lauren, Peterson Amanda, Yabumoto Megan, Merguerian Paul, Adam Margaret P

Abstract excerpt

Perrault syndrome is a heterogeneous phenotype that generally encompasses the findings of sensorineural hearing loss in both 46,XX and 46,XY individuals and varying degrees of abnormal ovarian function in 46,XX individuals. In this case report, we present two brothers with LARS2-related Perrault syndrome who have undervirilization. In addition to bilateral profound sensorineural hearing loss, both brothers had...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 40119736
DOI: 10.1002/ajmg.a.64064

Genes

LARS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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