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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

Related topics

Related topics

32 relations
AnhidrosisAnhydrotic Ectodermal DysplasiasAplasia/Hypoplastia of the eccrine sweat glandsDry skin
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Broader (1)

Skin Abnormalities

Papers overview

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Review
2016
Review
2016
The categories of cutaneous mosaicism: A proposed classification
  • 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
Antioxidant properties and composition of aqueous extracts from Mentha species, hybrids, varieties, and cultivars.
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
Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST).
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
Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein.
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
Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome
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
Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia
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
Sox9 expression during gonadal development implies a conserved role for the gene in testis differentiation in mammals and birds
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
X–linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein
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
Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1
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. A clinical presentation of dysplasia of the hip.
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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