Prenatal Diagnosis of Ellis-van Creveld Syndrome by Targeted Sequencing.

Author: Xiao-Yan HAO ¹ ; Chun-Na FAN ² ; Yi-Hua HE ¹ ; Jing-Lan LIU ³ ; Shu-Ping GE ³
Author Information

1. Department of Cardiograph, Capital Medical University Affiliated Beijing Anzhen Hospital, Beijing 100029, China.
2. Tianjin Translational Genomics Center, BGI-Tianjin, BGI-Shenzhen, Tianjin 300308, China.
3. Department of Pediatric Cardiology, St. Christopher's Children's Hospital, Philadelphia, USA.
Publication Type:Case Reports
MeSH: DNA Mutational Analysis; methods; Ellis-Van Creveld Syndrome; diagnosis; Female; Humans; Male; Pregnancy; Prenatal Diagnosis; methods; Proteins; genetics; Ultrasonography, Prenatal
From: Chinese Medical Journal 2016;129(15):1882-1883
CountryChina
Language:English