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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

Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
Carotid-Bulb Atypical Fibromuscular Dysplasia in Young Afro-Caribbean Patients With Stroke
Background and Purpose—An atypical form of fibromuscular dysplasia located in the internal carotid-bulb (CaFMD) is thought to be… 
2013
2013
Novel FOXF 1 mutations in sporadic and familial cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins imply a role for its DNA binding domain
Partha Sen1,†, Yaping Yang2, Colby Navarro1, Iris Silva1, Przemyslaw Szafranski2, Katarzyna E. Kolodziejska2, Avinash V… 
Highly Cited
2000
Highly Cited
2000
Acetabular dysplasia associated with hereditary multiple exostoses
1995
1995
What are the diagnostic criteria for intestinal neuronal dysplasia?
The incidence of isolated intestinal neuronal dysplasia (IND) has varied from 0.3% to 62% of all suction rectal biopsies in… 
Review
1989
Review
1989
Fibrous dysplasia masquerading as chronic maxillary sinusitis.
Fibrous dysplasia is a rare disease of unknown cause that affects one or multiple bones. In its monostotic form, only one bone is… 
Highly Cited
1987
Highly Cited
1987
HRAS1-selected chromosome transfer generates markers that colocalize aniridia- and genitourinary dysplasia-associated translocation breakpoints and the Wilms tumor gene within band 11p13.
We show that chromosome-mediated gene transfer can provide an enriched source of DNA markers for predetermined, subchromosomal… 
Review
1987
Review
1987
[Christ-Siemens-Touraine syndrome. Therapeutic case review].
The Christ-Siemens-Touraine syndrome, or anhidrotic ectodermal dysplasia, presents three principal signs: anhidrosis or… 
1981
1981
A family study of hydrocephalus resulting from aqueduct stenosis.
Stenosis of the aqueduct of Sylvius accounts for about one third of cases of congenital hydrocephalus. At least 32 families have… 
1967
1967
Hereditary syndromes with auditory and dermatological manifestations.
Congenital deafness may be associated with hereditary disorders of keratinization. Pili torti, twisted hair, was first reported… 
1947
1947
A study of miliaria rubra, tropical anhidrosis and anhidrotic asthenia.
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