EIF2AK3基因剪接位点突变导致沙特阿拉伯一个近亲家庭的Wolcott‐Rallison综合征

Congenital anomalies Pub Date : 2018-01-01 DOI:10.1111/cga.12217

J. Al-Aama, H. S. Al-Zahrani, M. Jelani, Hesham Salih Sabir, Saad Abdullah Al-Saeedi, Saleem Ahmed

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引用次数: 3

摘要

Jumana Yousuf Al-Aama, Hams Saeed Al-Zahrani, Musharraf Jelani, Hesham Salih Sabir, Saad Abdullah Al-Saeedi和Saleem Ahmed公主Al-Jawhara遗传性疾病卓越研究中心，医学院遗传医学系，阿卜杜勒阿齐兹国王大学医学院，儿科放射科，医学院儿科科，吉达，沙特阿拉伯

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Novel splice site mutation in EIF2AK3 gene causes Wolcott‐Rallison syndrome in a consanguineous family from Saudi Arabia

Jumana Yousuf Al-Aama, Hams Saeed Al-Zahrani, Musharraf Jelani , Hesham Salih Sabir, Saad Abdullah Al-Saeedi, and Saleem Ahmed Princess Al-Jawhara Center of Excellence in Research of Hereditary Disorders, Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Pediatric Radiology Unit, Faculty of Medicine, and Pediatric Department, Faculty of Medicine, King Abdulaziz University Hospital, Jeddah, Saudi Arabia

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Congenital anomalies

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