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| PubMed | |
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Article by DENG Wei-ping |
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Article by MO You |
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Article by WANG Jian-qin |
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Dyskeratosis congenita
Department of Dermatology, Guangdong Provincial People's Hospital,Guangzhou 510080, China
Department of Dermatology, Guangdong Provincial People's Hospital,Guangzhou 510080, China
Dyskeratosis congenita (DC) is a rare inherited disorder characterized by the triad of heterochromia-like pigmentation, nail dystrophy and mucosal leucoplakia in the mouth or vagina. It is caused by mutations in dyskerin-encoding genes, telomerase (TERC)-encoding RNA component genes and reverse transcriptase genes, as well as other uncharacterized genes. There are three inherited forms, including X-linked, autosomal dominant and autosomal recessive inheritance. No effective therapy has been found for this disease. This paper presents the advances in the research of DC pathogenesis, mutation profile, clinical phenotype and treatment.
�㶫ʡҽѧ���л����������(A2002574);�㶫ʡ�Ƽ��ƻ���Ŀ����(2006B36005017);�㶫ʡ��Ȼ��ѧ��������(031655)
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