Prenatal diagnosis and molecular genetic analysis of short rib-polydactyly syndrome type III (Verma-Naumoff) in a second-trimester fetus with a homozygous splice site mutation in intron 4 in the NEK1 gene

• Main Authors: Chih-Ping Chen (Author), Schu-Rern Chern (Author), Tung-Yao Chang (Author), Yi-Ning Su (Author), Yi-Yung Chen (Author), Jun-Wei Su (Author), Wayseen Wang (Author)
• Format: Book
• Published: Elsevier, 2012-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: To demonstrate perinatal imaging findings and to investigate the mutation in the NEK1 gene in a fetus with type III short rib-polydactyly syndrome (SRPS) (Verma-Naumoff). Case Report: A 34-year-old woman with no past history of fetal SRPS was referred to the hospital at 21 weeks of gestat...