A novel PRKACB variant associated with bilateral postaxial polydactyly and intrauterine growth restriction: A case report and literature review
The <i>PRKACB</i> gene c.802 G>A (p.Asp268Asn) variant is a potential genetic cause of bilateral postaxial polydactyly in the fetus. Identification of this variant expands the known mutational spectrum of <i>PRKACB</i> gene and provides an important reference for genetic counselling and prenatal diagnosis.
Authors
- Yang Wang (ORCID: https://orcid.org/0000-0001-7427-0095)
- Wenlong Shen (ORCID: https://orcid.org/0000-0002-2293-5590)
- Yaer Lv (ORCID: https://orcid.org/0000-0001-8866-8184)
- Xiaohua Tang
- Junjie Wu (ORCID: https://orcid.org/0000-0001-5951-8988)
- Xujun He (ORCID: https://orcid.org/0000-0002-6979-2072)
- Yan Zhang (ORCID: https://orcid.org/0000-0003-0107-1014)
- Jue Zhao (ORCID: https://orcid.org/0000-0003-0384-7613)
Institutions
- Zhejiang Provincial People's Hospital (CN)
- Hangzhou Medical College (CN)
Publication Details
- Journal
- Global Medical Genetics
- Published
- 2025-12-01
- DOI
- https://doi.org/10.1016/j.gmg.2025.100085
- Primary Topic
- Congenital limb and hand anomalies
- Type
- article
- Field-Weighted Citation Impact
- 0.00