期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
卷 129C, 期 1, 页码 23-28出版社
WILEY-LISS
DOI: 10.1002/ajmg.c.30024
关键词
retinoblastoma; genotype-phenotype associations; mutation; hereditary cancer predisposition
Hereditary retinoblastoma is an autosomal dominant disorder caused by mutations in the RB1 gene. Analysis of this rare condition has helped to elucidate the mechanisms underlying hereditary cancer predisposition in genera I. As identification of RB1 gene mutations has become a part of clinical management of patients with retinoblastoma, there is now a wealth of data. in this article, we summarize the current knowledge on the relations between the genotype and phenotypic expression. Moreover, detailed analysis of genotype-phenotype relations shows that hereditary retinoblastoma has features of a complex trait. (C) 2004 Wiley-Liss, Inc.
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