Molecular diagnosis of patients with syndromic short stature identified by trio whole-exome sequencing
Trio-WES is an important strategy for identifying genetic variants and UPD in patients with syndromic short stature, in which dual genetic variants are existent in some individuals. It is important to differentiate between syndromic and isolated short stature. Genetic testing has a high yield for syndromic patients but low for isolated patients.
Authors
- Huihui Sun (ORCID: https://orcid.org/0000-0003-3710-835X)
- Na Li (ORCID: https://orcid.org/0000-0002-1969-1863)
- Geng Zhang
- Xiangfang Bu
Institutions
- Capital Medical University (CN)
- Peking University (CN)
- Beijing Jishuitan Hospital (CN)
- BeiGene (China) (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2024-10-02
- DOI
- https://doi.org/10.3389/fgene.2024.1399186
- Citations
- 5
- Primary Topic
- RNA modifications and cancer
- Type
- article
- Field-Weighted Citation Impact
- 1.17
Funders
- Capital Medical University