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Prenatal Diagnosis of ellis-van creveld Syndrome by Targeted Sequencing

Chinese Medical Journal 2016年第15期129卷 1882-1883页

作者： Xiao-Yan Hao Chun-Na Fan Yi-Hua He Jing-Lan Liu Shu-Ping Ge Department of Cardiograph Capital Medical University Affiliated Beijing Anzhen Hospital Beijing 100029 China Tianjin Translational Genomics Center BGI-Tianjin BGI-Shenzhen Tianjin 300308 China Department of Pediatric Cardiology St Christopher's Children's Hospital Philadelphia USA

To the Editor： ellis van creveld （EvC） syndrome is a rare, autosomal recessive skeletal dysplasia with the prevalence of 1/60,000 approximatelyJu It is characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails/teeth, and congenital heart defects （CHD） which were observed in about 60% of affected individuals. Mutations in genes EHCoF EVC2 have been identified in two-thirds of patients with EvC syndrome.

关键词： ellis-van creveld Syndrome Targeted Sequencing

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