Polydactyly: How many disorders and how many genes?
Polydactyly: How many disorders and how many genes?
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DOI：
10.1002/ajmg.10779
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发表时间：
2002-10-15
期刊：
影响因子：
--
通讯作者：
Biesecker, LG
中科院分区：
文献类型：
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作者：
Biesecker, LG
以多指畸形为表现的疾病多种多样且数量众多。按表型和基因型对这些疾病进行分类，显示出许多重叠的表型、表型的遗传异质性以及单个基因突变产生的不同表型。为了评估这些问题，我们从多个来源编制了一份多指疾病清单。在 119 种疾病中，39 种疾病与基因突变有关，其中基因型和表型重叠。这些问题突出表明需要一个对基因型和表型进行分类的诊断系统。 2002 年 Wiley-Liss, Inc（匕首）出版。
Disorders that include polydactyly as a manifestation are diverse and numerous. Cataloging these disorders by phenotype and genotype demonstrates numerous overlapping phenotypes, genetic heterogeneity of phenotypes, and distinct phenotypes generated from mutations in single genes. To assess these issues, a list of disorders with polydactyly has been compiled from several sources. Among 119 disorders, 39 disorders are associated with mutations in genes, and among these, genotypic and phenotypic overlap is demonstrated. These issues highlight the need for a diagnostic system that catalogs both genotype and phenotype. Published 2002 Wiley-Liss, Inc(dagger).