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Melkersson-Rosenthal syndrome and de novo autosomal t(9;21)(p11;p11) translocation.

作者信息

Smeets E, Fryns J P, Van den Berghe H

机构信息

Centre for Human Genetics, University of Leuven, Belgium.

出版信息

Clin Genet. 1994 Jun;45(6):323-4. doi: 10.1111/j.1399-0004.1994.tb04041.x.

DOI:10.1111/j.1399-0004.1994.tb04041.x
PMID:7923865
Abstract

In this report we describe a 26-year-old female with the typical clinical symptoms and signs of Melkersson-Rosenthal syndrome, an autosomal dominant with variable expression, and a de novo t(9;21)(p11;p11), and suggest that the "Melkersson-Rosenthal gene" is located at 9p11.

摘要

相似文献

1
Melkersson-Rosenthal syndrome and de novo autosomal t(9;21)(p11;p11) translocation.
Clin Genet. 1994 Jun;45(6):323-4. doi: 10.1111/j.1399-0004.1994.tb04041.x.
2
[A case of typical Melkersson-Rosenthal syndrome with possible autosomal dominant inheritance].[一例可能为常染色体显性遗传的典型梅尔克森-罗森塔尔综合征病例]
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