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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

Related topics

Related topics

32 relations
AnhidrosisAnhydrotic Ectodermal DysplasiasAplasia/Hypoplastia of the eccrine sweat glandsDry skin

Broader (1)

Skin Abnormalities

Papers overview

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Highly Cited
2015
Highly Cited
2015
Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers.
AIMS We sought to determine the influence of genotype on clinical course and arrhythmic outcome among arrhythmogenic right… 
Review
2012
Review
2012
The United States Registry for Fibromuscular Dysplasia: Results in the First 447 Patients
Background— Fibromuscular dysplasia (FMD), a noninflammatory disease of medium-size arteries, may lead to stenosis, occlusion… 
Highly Cited
2003
Highly Cited
2003
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans
Remodeling of the cytoskeleton is central to the modulation of cell shape and migration. Filamin A, encoded by the gene FLNA, is… 
Highly Cited
2003
Highly Cited
2003
Dentin Sialophosphoprotein Knockout Mouse Teeth Display Widened Predentin Zone and Develop Defective Dentin Mineralization Similar to Human Dentinogenesis Imperfecta Type III*
Dentin sialophosphoprotein (Dspp) is mainly expressed in teeth by the odontoblasts and preameloblasts. The Dspp mRNA is… 
Review
2002
Review
2002
Analysis and classification of cerebellar malformations.
BACKGROUND AND PURPOSE Because of improved visualization of posterior fossa structures with MR imaging, cerebellar malformations… 
Highly Cited
1997
Highly Cited
1997
Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia
Cleidocranial dysplasia (CCD) is an autosomal dominant disorder characterized by hypoplastic or absent clavicles, large… 
Highly Cited
1996
Highly Cited
1996
Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia
The longitudinal growth of the skeleton arises from the continuous process of endochondral ossification occurring at the ends of… 
Highly Cited
1995
Highly Cited
1995
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3
Thanatophoric dysplasia (TD), the most common neonatal lethal skeletal dysplasia, affects one out of 20,000 live births. Affected… 
Review
1991
Review
1991
Focal neuronal migration disorders and intractable partial epilepsy: A study of 30 patients
We studied 30, patients with partial epilepsy and a radiological or pathological diagnosis of localized neuronal migration… 
Highly Cited
1988
Highly Cited
1988
Pathogenesis of experimentally induced feline immunodeficiency virus infection in cats.
Feline immunodeficiency virus (FIV; formerly, feline T-lymphotropic lentivirus) is a typical lentivirus resembling human and… 
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