?遗传性耳聋
... * 史蒂克勒氏综合征(Stickler syndrome) * 遗传性耳聋-色素性视网膜炎综合征(Usher syndrome) * 不定性卟啉病(Variegate porphyria ...
?尤塞氏综合症
1型尤塞氏综合症(Usher syndrome)是导致聋盲的最常见病因,美国16,000名聋盲患者中,约有一半是由1型尤塞氏综合症引起的。
?综合症
在过去的十年中,人类基因数据显示,突变的VLGR1可以导致亚瑟综合症(Usher Syndrome),其症状包含先天性的听觉丧失和渐进的视网膜炎。
When mice with Usher syndrome were injected with the "genetic patch" they grew up able to hear and had no balance problems.
BBC: Genetic patch 'stops deafness' in newborn mice
Unbeknownst to them, he had what is known as Usher Syndrome, which also causes gradual blindness due to Retinitis Pigmentosa starting at birth.
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