Prenatal Diagnosis of Rubinstein‐Taybi Syndrome—Reporting Twelve Cases of a Rare Disease
Our results underscore the challenges faced in the prenatal detection of RSTS due to the lack of specific clinical presentations. Our study highlights that even nonspecific findings on prenatal ultrasound may justify exome sequencing, enabling timely potential genetic diagnoses and improving clinical management.
Authors
- Xiangyi Jing (ORCID: https://orcid.org/0000-0001-7703-723X)
- Qiuxia Yu (ORCID: https://orcid.org/0000-0003-4621-7523)
- Li Zhen
- Shuyu Li (ORCID: https://orcid.org/0000-0002-3402-4903)
- Dong‐Zhi Li (ORCID: https://orcid.org/0000-0002-4583-6800)
- Zhi‐Qing Xiao
Institutions
- Guangzhou Medical University (CN)
Publication Details
- Journal
- Prenatal Diagnosis
- Published
- 2025-10-31
- DOI
- https://doi.org/10.1002/pd.70009
- Primary Topic
- Congenital limb and hand anomalies
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Guangzhou Municipal Science and Technology Project