Ellis-Van Creveld Syndrome: Prenatal Diagnosis, Molecular Analysis and Genetic Counseling

Ellis-Van Creveld Syndrome: Prenatal Diagnosis, Molecular Analysis and Genetic Counseling

Objective: To present the perinatal findings and molecular genetic analysis of two siblings with Ellis-van Creveld (EvC) syndrome. Materials, Methods and Results: A 33-year-old woman, gravida 3, para 1, was referred for genetic counseling at 18 gestational weeks because of recurrent fetal skeletal d...

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Bibliographic Details
Main Authors: Chih-Ping Chen, Yi-Ning Su, Chin-Yuan Hsu, Schu-Rern Chern, Fuu-Jen Tsai, Pei-Chen Wu, Po-Tsang Chen, Wayseen Wang
Format: Article
Language:English
Published: Elsevier 2010-12-01
Series:Taiwanese Journal of Obstetrics & Gynecology
Subjects:
Ellis-van Creveld syndrome
EVC
EVC2
prenatal diagnosis
ultrasound
Online Access:http://www.sciencedirect.com/science/article/pii/S1028455910601015

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http://www.sciencedirect.com/science/article/pii/S1028455910601015

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