先天性巨结肠的三代遗传
Three-generation transmission of Hirschsprung's disease.
作者信息
Lipson A H, Harvey J
出版信息
Clin Genet. 1987 Sep;32(3):175-8. doi: 10.1111/j.1399-0004.1987.tb03350.x.
Abstract
A three-generation family with non-syndromic biopsy-proven Hirschsprung's disease involving both short and long segments of the large bowel is reported. Although this is the first three-generation family reported, it is expected that with the improved diagnosis and treatment that has occurred over the last 30 years further such families will be described, and that the heritability of this condition will be further clarified.
摘要
本文报告了一个三代家族，该家族患有经活检证实的非综合征型先天性巨结肠，累及大肠的短段和长段。尽管这是首个报道的三代家族病例，但预计在过去30年诊断和治疗水平提高的情况下，将会有更多此类家族被描述出来，且这种疾病的遗传特性也将得到进一步阐明。
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