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… (More)
National Institutes of Health

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

Skin Abnormalities

Papers overview

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2012
2012
Prosthodontic management of patients with Christ-Siemens-Touraine syndrome.
Christ-Siemens-Touraine syndrome also known as anhidrotic ectodermal dysplasia. Ectodermal dysplasia is a hereditary disorder… (More)
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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… (More)
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Highly Cited
2001
Highly Cited
2001
Haploinsufficiency of Sox9 results in defective cartilage primordia and premature skeletal mineralization.
In humans, SOX9 heterozygous mutations cause the severe skeletal dysmorphology syndrome campomelic dysplasia. Except for clinical… (More)
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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… (More)
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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… (More)
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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… (More)
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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… (More)
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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… (More)
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Highly Cited
1990
Highly Cited
1990
Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients.
To define the clinical picture and course of the autosomal recessive disease called autoimmune polyendocrinopathy-candidiasis… (More)
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Highly Cited
1961
Highly Cited
1961
ACETABULAR DYSPLASIA: The Acetabular Angle
 
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