Genetic analysis of a pedigree with nail-patella syndrome and literature review
Objective To analyze the clinical and molecular genetic features in one pedigree with nail-patella syndrome（NPS）， and provide evidence for genetic counseling and reproductive guidance for this family. Methods Whole-exon sequencing （WES）was performed to detect the gene variant of the proband and the...
| Main Author: | |
|---|---|
| Format: | Article |
| Language: | zho |
| Published: |
Editorial Office of Journal of New Medicine
2023-05-01
|
| Series: | Xin yixue |
| Subjects: | |
| Online Access: | https://www.xinyixue.cn/fileup/0253-9802/PDF/1686187841405-1881378887.pdf |