CLPP Gene Variants Causing Perrault Syndrome Type 3 in Han Chinese Families: A Genotype-Phenotype Study

CLPP Gene Variants Causing Perrault Syndrome Type 3 in Han Chinese Families: A Genotype-Phenotype Study

Abstract Background Perrault syndrome is a rare autosomal recessive disorder characterized by sensorineural hearing loss (SNHL) and primary ovarian insufficiency (POI) secondary to ovarian dysgenesis. However, the mutation spectrum of disease-causing genes for Perrault syndrome in the Chinese popula...

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Bibliographic Details
Main Authors: Xicui Long, Bingqian Yang, Wei Wang, Wan Peng, Xiaolu Wang, Wenyu Xiong, Man Liu, Huijun Yuan, Yu Lu
Format: Article
Language:English
Published: BMC 2025-05-01
Series:Human Genomics
Subjects:
CLPP
Perrault syndrome type 3
Genotype-phenotype correlation
Genotype-driven
Online Access:https://doi.org/10.1186/s40246-025-00762-5
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https://doi.org/10.1186/s40246-025-00762-5

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