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事关“象人”:新近才发现是基因颠倒所致[英文]

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编者按:今天《八阕》转载了南方网的一则新闻《澄江怪病男子全身长“鱼鳞”(组图)》。现有八阕网友从加州发来解释如下:

To whom may concern

The report on the "Elephant man" in Chenjiang, Yunnan province (Nov. 13, 2006) is devastating. This young man is most likely suffering from a serious skin disorder named "harlequin ichthyosis". It has been recently discovered that harlequin ichthosis (HI) is a congenital skin disease results from gene mutation of ABCA12,a lipid transporter which is critical for normal skin development. This discovery will help for early prenatal diagnosis of HI so the risk mother can make a early decision to stop the pregnancy. Unfortunately, despite the progress on several aspects of this disorder, so far no efficient treatment is available for survived adult.

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