Novel mutation in ELN gene causes cardiac abnormalities and inguinal hernia: case report
Elastin-driven genetic diseases are a group of complex diseases driven by elastin protein insufficiency and dominant-negative production of aberrant protein, including supravalvular aortic stenosis (SVAS) and ...
Source: BMC Pediatrics - Category: Pediatrics Authors: Hua-yong Zhang, Min Xiao and Yong Zhang Tags: Case report Source Type: research