Rodriguez syndrome with an SF3B4 gene mutation: A case report
- Ryo Nakatani
, - Rinshu Shimabukuro,
- Shinsuke Hirabayashi,
- Mikiko Aoki,
- Michiko Yamanaka,
- Gen Nishimura
Abstract
The case was a male neonate born by emergent cesarean section due to
non-reassuring fetal status at 30 weeks of gestation. His manifestations
were consistent with those of Rodriguez syndrome. Molecular analysis
revealed an SF3B4 mutation.
