Clinical Characteristics and Identification of Pathogenic Variant in a Large Chinese Family With Waardenburg Syndrome
In this study, we reported a family with autosomal dominant Waardenburg syndrome type 2 and identified a heterozygous variant of the SOX10 gene by exome sequencing. In addition, prenatal diagnosis and genetic counseling were provided to the family related individual.
Authors
- Luquan Cao
- Shan Shan (ORCID: https://orcid.org/0000-0003-4928-588X)
- Fei Hou (ORCID: https://orcid.org/0000-0001-8681-5355)
- Hua Jin (ORCID: https://orcid.org/0000-0001-5478-4611)
- Yan Li (ORCID: https://orcid.org/0000-0001-7991-7564)
- Shuicheng Yan (ORCID: https://orcid.org/0000-0001-8906-3777)
Institutions
- Jinan Maternity And Care Hospital (CN)
- Shandong Maternal and Child Health Hospital (CN)
- Shandong First Medical University (CN)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2025-08-29
- DOI
- https://doi.org/10.1002/mgg3.70134
- Primary Topic
- Digestive system and related health
- Type
- article
- Field-Weighted Citation Impact
- 0.00