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

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

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...

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Bibliographic Details
Main Authors: Chih-Ping Chen, Tung-Yao Chang, Chen-Yu Chen, Tao-Yeuan Wang, Fuu-Jen Tsai, Pei-Chen Wu, Schu-Rern Chern, Wayseen Wang
Format: Article
Language:English
Published: Elsevier 2012-03-01
Series:Taiwanese Journal of Obstetrics & Gynecology
Subjects:
NEK1
prenatal diagnosis
type II short rib-polydactyly syndrome (Majewski)
ultrasound
Online Access:http://www.sciencedirect.com/science/article/pii/S1028455912000216

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http://www.sciencedirect.com/science/article/pii/S1028455912000216

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