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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… Expand
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2016
Review
2016
  • R. Happle
  • American journal of medical genetics. Part A
  • 2016
  • Corpus ID: 205321280
Mosaic disorders can most easily be studied in the skin. This article presents a comprehensive overview of the different forms of… Expand
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Highly Cited
2003
Highly Cited
2003
Water-soluble extracts from the Mentha species M. aquatica L. and M. haplocalyx Briq., the hybrids M. x dalmatica L. and M. x… Expand
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Highly Cited
2001
Highly Cited
2001
Sclerosteosis is a progressive sclerosing bone dysplasia with an autosomal recessive mode of inheritance. Radiologically, it is… Expand
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Highly Cited
2001
Highly Cited
2001
Sclerosteosis is an autosomal recessive sclerosing bone dysplasia characterized by progressive skeletal overgrowth. The majority… Expand
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Highly Cited
1999
Highly Cited
1999
EEC syndrome is an autosomal dominant disorder characterized by ectrodactyly, ectodermal dysplasia, and facial clefts. We have… Expand
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Highly Cited
1997
Highly Cited
1997
Cleidocranial dysplasia (CCD) is an autosomal-dominant condition characterized by hypoplasia/aplasia of clavicles, patent… Expand
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Highly Cited
1996
Highly Cited
1996
Heterozygous mutations in SOX9 lead to a human dwarfism syndrome, Campomelic dysplasia. Consistent with a role in sex… Expand
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Highly Cited
1996
Highly Cited
1996
Ectodermal dysplasias comprise over 150 syndromes of unknown pathogenesis. X–linked anhidrotic ectodermal dysplasia (EDA) is… Expand
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Highly Cited
1994
Highly Cited
1994
Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by multisystemic vascular dysplasia… Expand
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Review
1991
Review
1991
The acetabular rim syndrome is a pathological entity which we illustrate by reference to 29 cases. The syndrome is a precursor of… Expand
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