A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum

被引：0
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作者：
Qian Peng
Yan Deng
Yuan Yang
Hanmin Liu
机构：
[1] West China Second University Hospital/West China Women’s and Children’s Hospital,Department of Pediatric Cardiology
[2] West China School of Medicine,Department of Pediatrics
[3] Sichuan University,Department of Cardiovascular Ultrasound and Non
[4] Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University),invasive Cardiology
[5] Ministry of Education,Department of Medical Genetics
[6] Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital,undefined
[7] Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital,undefined
[8] West China Hospital,undefined
[9] West China School of Medicine,undefined
[10] Sichuan University,undefined
来源：
BMC Pediatrics | / 16卷
关键词：
Calcium-binding EGF-like domain; Cysteine substitution; Disulfide bond; Neonatal Marfan syndrome;
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