CLPP Gene Variants Causing Perrault Syndrome Type 3 in Han Chinese Families: A Genotype-Phenotype Study
This study highlights the challenges in diagnosing Perrault syndrome due to its genetically and clinically heterogeneity. By exploring novel variants and establishing genotype-phenotype correlations, we aim to improve the genetic diagnosis and consultation for this complex disorder.
Authors
- Wei Wang (ORCID: https://orcid.org/0000-0003-2302-6273)
- Huijun Yuan (ORCID: https://orcid.org/0000-0002-4173-7688)
- Bingqian Yang (ORCID: https://orcid.org/0000-0003-4748-0921)
- Xicui Long (ORCID: https://orcid.org/0000-0001-9728-7842)
- Manqiang Liu (ORCID: https://orcid.org/0000-0001-6654-7795)
- Yu Lu (ORCID: https://orcid.org/0000-0003-3944-1252)
- Xiaolu Wang (ORCID: https://orcid.org/0000-0002-0271-2453)
- Peng Wan (ORCID: https://orcid.org/0000-0002-3560-4969)
- Wenyu Xiong (ORCID: https://orcid.org/0009-0005-9285-8825)
Institutions
- Sichuan University (CN)
- Kunming Medical University (CN)
- Wuhan University (CN)
- West China Hospital of Sichuan University (CN)
- Renmin Hospital of Wuhan University (CN)
- Yan'an Hospital Affiliated To Kunming Medical University (CN)
Publication Details
- Journal
- Human Genomics
- Published
- 2025-05-23
- DOI
- https://doi.org/10.1186/s40246-025-00762-5
- Primary Topic
- Endoplasmic Reticulum Stress and Disease
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Sichuan University
- National Key Research and Development Program of China
- West China Hospital, Sichuan University