Literature DB >> 517572

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

M Pinheiro, N Freire-Maia.   

Abstract

Detection of carriers of the Christ-Siemens-Touraine syndrome on the basis of data of physical examination has been possible in about 60--70% of the cases reported in 44 papers, including a large Brazilian kindred studied by the authors. Partial data, however, showed detection values ranging from 42% to 84%.

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Year:  1979        PMID： 517572     DOI： 10.1002/ajmg.1320040204

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  5 in total

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

Authors:  M Pinheiro; M T Ideriha; E A Chautard-Freire-Maia; N Freire-Maia; S L Primo-Parmo
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

2.  Ectodermal dysplasia in females.

Authors:  N Freire-Maia; M Pinheiro
Journal:  J Med Genet       Date:  1982-08       Impact factor: 6.318

3.  Case series: Treatment considerations in x-linked hypohidrotic ectodermal dysplasia.

Authors:  M O Lexner; L Almer
Journal:  Eur Arch Paediatr Dent       Date:  2009-11

4.  Carrier detection in Christ-Siemens-Touraine syndrome (X-linked hypohidrotic ectodermal dysplasia)

Authors:  N Freire-Maia; M Pinheiro
Journal:  Am J Hum Genet       Date:  1982-07       Impact factor: 11.025

5.  Christ-Siemens-Touraine syndrome with palmoplantar keratoderma: A rare association.

Authors:  Sunil K Kothiwala; Mahesh Prajapat; C M Kuldeep
Journal:  Indian Dermatol Online J       Date:  2016 Sep-Oct
  5 in total

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