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

Papers overview

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2012
2012
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
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
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
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
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
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
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 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
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
 
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