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

• Príomhchruthaitheoirí: Chih-Ping Chen (Údar), Schu-Rern Chern (Údar), Tung-Yao Chang (Údar), Yi-Ning Su (Údar), Yi-Yung Chen (Údar), Jun-Wei Su (Údar), Wayseen Wang (Údar)
• Formáid: LEABHAR
• Foilsithe / Cruthaithe: Elsevier, 2012-06-01T00:00:00Z.
• Ábhair: article
• Rochtain ar líne: 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...