Short rib-polydactyly syndrome type II (Majewski): Prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene

• প্রধান লেখক: Chih-Ping Chen (লেখক), Tung-Yao Chang (লেখক), Chen-Yu Chen (লেখক), Tao-Yeuan Wang (লেখক), Fuu-Jen Tsai (লেখক), Pei-Chen Wu (লেখক), Schu-Rern Chern (লেখক), Wayseen Wang (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: Elsevier, 2012-03-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: 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 II short rib-polydactyly syndrome (SRPS) (Majewski). Case Report: A 34-year-old woman with a past history of fetal SRPS was referred to the hospital at 16 weeks of gestation bec...