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| PubMed | |
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Article by CAI Yan-xia |
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Article by LI Chang-xing |
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Article by LUO Quan |
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Article by ZHANG Xi-bao |
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���۲��ۺ�����һ��Ƥ��֢״����Ϊ���۲������Ŵ��Լ���,�����ڻ���ͻ�����𡣽������������о��϶�,��ȡ���˲��ٽ�չ�����о���Ҫ�����ڷ������Ƽ�������,�����Ѷ�KID�ۺ�����CHILD�ۺ�����NLS�ȵĻ���ͻ���������о�,���д��ɵ�����ͻ�����¡�
Genetics Research in Ichthyosis Syndrome
Guangzhou Institute of Dermatology, Ghangzhou 510095, China
Guangzhou Institute of Dermatology, Ghangzhou 510095, China
Ichthyosis syndrome is a series of genodermatoses clinically manifested by ichthyosiform lesions. Most of them are caused by gene mutations. Recently, a number of researches have been performed about these diseases and have made many progresses. The researches mainly focus on the genetics and pathogenesis of these diseases. For example, they have explored the mutation sites in KID, CHILD syndrome and NLS, etc, and it is implicated that most of those syndromes are due to single gene mutation.
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[13] Konig A,Happle R,Bornholdt D,et al.Mutations in the NSDHL gene,encoding a 3beta-hydroxysteroid dehydrogenase,cause CHILD syndrome.Am J Med Genet,2000,90:339-346.
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