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[The phenotypes and genotypes of four patients with Dubin-Johnson syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics(2022)

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摘要
All of the patients were diagnosed as Dubin-Johnson syndrome (DJS) caused by ABCC2 gene variants. The novel variants add to the spectrum of genetic variants of the disease. Because of the favorite prognosis, precise diagnosis can greatly reduce the psychological pressure of patients and avoid excessive treatments. At the same time, it could provide pertinent genetic counseling for the families.
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关键词
13q21.1q21.32 deletion,Chromosome copy number variation,Prenatal diagnosis,Genetic counselling
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