Literature DB >> 7471507

Athelia in a female infant - heterozygous for anhidrotic ectodermal dysplasia.

U Burck, K R Held.   

Abstract

The case of a female infant with athelia is reported. Her mother, maternal aunt and grandmother show hypodontia, sparse hair and small breasts associated with mammillary hypoplasia. The clinical features and the results of MINOR's sweat test suggest a heterozygous state of anhidrotic ectodermal dysplasia as the most likely explanation.

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Year:  1981        PMID: 7471507     DOI: 10.1111/j.1399-0004.1981.tb00680.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  3 in total

1.  X-linked ectodermal dysplasia receptor is downregulated in breast cancer via promoter methylation.

Authors:  Vasu Punj; Hittu Matta; Preet M Chaudhary
Journal:  Clin Cancer Res       Date:  2010-02-09       Impact factor: 12.531

2.  The phenotypic characteristics of patients with athelia and tooth agenesis.

Authors:  Xiaoling Chen; Yan Xiang; Lvli Yang; Yao Lin
Journal:  Ann Transl Med       Date:  2021-10

3.  Ectodermal dysplasia with amastia: a case of one-step reconstruction.

Authors:  M Klinger; F Caviggioli; B Banzatti; C Fossati; F Villani
Journal:  Case Rep Med       Date:  2009-05-04
  3 in total

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