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Article

A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family.

Journal of clinical research in pediatric endocrinology - 1 Dec 2016

Dursun Fatma, Mohamoud Hussein Sheikh Ali, Karim Noreen, Naeem Muhammad, Jelani Musharraf, Kırmızıbekmez Heves

Abstract excerpt

Perrault syndrome (PRLTS) is a heterogeneous group of clinical and genetic disorders characterized by sensory neuronal hearing loss in both sexes and premature ovarian failure or infertility in females. Neurological and hearing loss symptoms appear early in life, but female infertility cannot be detected before puberty. Spastic limbs, muscle weakness, delayed puberty and irregular menstrual cycles have also been...

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Topics

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Share to Chromosome Mapping
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Endopeptidase Clp

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Source

Open in PubMed Open full text

Identifiers

PMID: 27087618
DOI: 10.4274/jcrpe.2717
PMCID: PMC5198008

Genes

CLPP
HARS2
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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