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Christ-Siemens-Touraine syndrome

Known as: anhidrotic dysplasia ectodermal, X Linked Hypohydridic Ectodermal Dysplasia, EDA 
A rare genetic disorder characterized by mutations in the gene encoding ectodysplasin A. It results in abnormalities in the morphogenesis of the… 
National Institutes of Health

Papers overview

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Highly Cited
2012
Highly Cited
2012
Helicases are enzymes that use ATP-driven motor force to unwind double-stranded DNA or RNA. Recently, increasing evidence… 
Highly Cited
2003
Highly Cited
2003
NEMO (NF-kappaB essential modifier)/IKKgamma (IkappaB kinase-gamma) is required for the activation of the IkappaB kinase complex… 
Highly Cited
2003
Highly Cited
2003
Hydrops-ectopic calcification-"moth-eaten" (HEM) or Greenberg skeletal dysplasia is an autosomal recessive chondrodystrophy with… 
Highly Cited
2003
Highly Cited
2003
Asphyxiating thoracic dystrophy (ATD), or Jeune syndrome, is a multisystem autosomal recessive disorder associated with a… 
Highly Cited
2000
Highly Cited
2000
OBJECTIVE The aim of the study was to assess the complex of autoantibodies which can be detected in patients with autoimmune… 
Highly Cited
1999
Highly Cited
1999
Molecular mechanisms of myelin removal by macrophages were explored by examining the immunophenotypes of macrophages following… 
Highly Cited
1983
Highly Cited
1983
We have studied 80 patients with pernicious anaemia. Upper gastrointestinal endoscopy (with biopsy and cytology) showed no lesion… 
Review
1979
Review
1979
A total of 27 women of a Brazilian kindred are described as having one or more signs of the Christ-Siemens-Touraine syndrome. The… 
Highly Cited
1967
Highly Cited
1967
The three groups of abnormal chick embryos known as talpids show a common pattern of remarkably widespread pleiotropic… 
Highly Cited
1962
Highly Cited
1962
This case report presents the pedigree of a family with hereditary ectodermal dysplasia of the hidrotic type in which various…