克里斯蒂 - 西门子 - 图赖讷综合征。对两个巴西大家族的调查及携带者中表现率的新估计 - Suppr

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Christ-Siemens-Touraine syndrome. Investigations on two large Brazilian kindreds with a new estimate of the manifestation rate among carriers.

作者信息

Pinheiro M, Ideriha M T, Chautard-Freire-Maia E A, Freire-Maia N, Primo-Parmo S L

出版信息

Hum Genet. 1981;57(4):428-31. doi: 10.1007/BF00281698.

DOI:10.1007/BF00281698

PMID:7286985

Abstract

摘要

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本文引用的文献

[Ectodermal dysplasia of the anhidrotic type; 5 new cases].

Helv Paediatr Acta. 1956 Dec;11(6):604-39.

So-called "anhidrotic ectodermal dysplasia".

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Further evidence against linkage between Christ-Siemens-Touraine (CST) and XG loci.

Hum Genet. 1981;57(2):205-6. doi: 10.1007/BF00282024.

Hypohidrotic (or anhidrotic) ectodermal dysplasia--an appraisal of diagnostic methods.

Br J Dermatol. 1970 Sep;83(3):341-8. doi: 10.1111/j.1365-2133.1970.tb15713.x.

X chromosome inactivation in X-linked hypohidrotic ectodermal dysplasia.

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A stain for sweat pores.

Nature. 1967 Jan 28;213(5074):408. doi: 10.1038/213408a0.

X-linked anhidrotic ectodermal dysplasia with some unusual features.

J Med Genet. 1976 Jun;13(3):212-6. doi: 10.1136/jmg.13.3.212.

Christ-Siemens-Touraine syndrome--a clinical and genetic analysis of a large Brazilian kindred: II. Affected males.

Am J Med Genet. 1979;4(2):123-8. doi: 10.1002/ajmg.1320040203.

Christ-Siemens-Touraine syndrome--a clinical and genetic analysis of a large Brazilian kindred: III. Carrier detection.

Am J Med Genet. 1979;4(2):129-34. doi: 10.1002/ajmg.1320040204.

Christ-Siemens-Touraine syndrome--a clinical and genetic analysis of a large Brazilian kindred: I. Affected females.

Am J Med Genet. 1979;4(2):113-22. doi: 10.1002/ajmg.1320040202.

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