Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants
The diagnosis of PHARC syndrome is challenging because of its genetic heterogeneity. Therefore, exploring novel variants and establishing genotype-phenotype correlations can significantly enhance gene diagnosis and genetic counseling for this complex disease.
Authors
- Wenyu Xiong
- Mingjun Zhong (ORCID: https://orcid.org/0000-0002-1525-1270)
- Fengxiao Bu (ORCID: https://orcid.org/0000-0002-4882-4856)
- Huijun Yuan
- Xicui Long (ORCID: https://orcid.org/0000-0001-9728-7842)
- Lu Yu (ORCID: https://orcid.org/0000-0001-7842-9550)
- Manqiang Liu (ORCID: https://orcid.org/0000-0001-6654-7795)
- Xuegang Wang
- Jia Geng (ORCID: https://orcid.org/0000-0001-8443-7231)
- Yü Huang (ORCID: https://orcid.org/0000-0002-1277-6784)
- Jing Cheng
Institutions
- Sichuan University (CN)
- West China Hospital of Sichuan University (CN)
Publication Details
- Journal
- BMC Medical Genomics
- Published
- 2024-08-09
- DOI
- https://doi.org/10.1186/s12920-024-01984-7
- Citations
- 2
- Primary Topic
- Pancreatic function and diabetes
- Type
- article
- Field-Weighted Citation Impact
- 1.15
Funders
- Sichuan University
- National Key Research and Development Program of China
- West China Hospital, Sichuan University