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Hypohidrotic ectodermal dysplasia
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The authors report a case of Hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome), diagnosed at the age of 2 months.Abstract:
The authors report a case of Hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome). Diagnosed at the age of 2 months.read more
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Journal ArticleDOI
Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia
Alex W. Monreal,Betsy Ferguson,Denis J. Headon,Summer L. Street,Paul A. Overbeek,Jonathan Zonana +5 more
TL;DR: X-linked hypohidrotic ectodermal dysplasia results in abnormal morphogenesis of teeth, hair and eccrine sweat glands, and the gene (ED1) responsible for the disorder has been identified, as well as the analogous X-linked gene in the mouse.
Journal ArticleDOI
An Ancient Gene Network Is Co-Opted for Teeth on Old and New Jaws
Gareth J. Fraser,C. Darrin Hulsey,C. Darrin Hulsey,Ryan F. Bloomquist,Kristine Uyesugi,Nancy R. Manley,J. Todd Streelman +6 more
TL;DR: It is shown that tooth number is correlated on oral and pharyngeal jaws across species of cichlid fishes from Lake Malawi (East Africa), suggestive of common regulatory mechanisms for tooth initiation and an amazing modularity of jaws and teeth as they coevolved during the history of vertebrates.
Journal ArticleDOI
Hypohidrotic ectodermal dysplasia.
TL;DR: X linked hypohidrotic ectodermal dysplasia was studied in the dentition of both affected males and carrier females and Hypodontia was more severe in males than females and there were differences in the pattern of tooth absence between the sexes.
Journal ArticleDOI
Ectodermal dysplasias: Not only 'skin' deep
TL;DR: This work reviews EDs in the light of the most recent molecular findings and proposes a new classification of EDs integrating both molecular‐genetic data and corresponding clinical findings of related diseases.
Journal ArticleDOI
Ectodermal dysplasia: a genetic review.
Seema Deshmukh,S Prashanth +1 more
TL;DR: The history and lessons learned from hypohidrotic ectodermal dysplasia (HED) may serve as an example for unraveling of the cause and pathogenesis of other ectodmal Dysplasia syndromes by demonstrating that phenotypically identical syndrome can be caused by mutations in different genes.
References
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Journal ArticleDOI
An Ancient Gene Network Is Co-Opted for Teeth on Old and New Jaws
Gareth J. Fraser,C. Darrin Hulsey,C. Darrin Hulsey,Ryan F. Bloomquist,Kristine Uyesugi,Nancy R. Manley,J. Todd Streelman +6 more
TL;DR: It is shown that tooth number is correlated on oral and pharyngeal jaws across species of cichlid fishes from Lake Malawi (East Africa), suggestive of common regulatory mechanisms for tooth initiation and an amazing modularity of jaws and teeth as they coevolved during the history of vertebrates.
Journal ArticleDOI
Hypohidrotic ectodermal dysplasia.
TL;DR: X linked hypohidrotic ectodermal dysplasia was studied in the dentition of both affected males and carrier females and Hypodontia was more severe in males than females and there were differences in the pattern of tooth absence between the sexes.
Journal ArticleDOI
Ectodermal dysplasias: Not only 'skin' deep
TL;DR: This work reviews EDs in the light of the most recent molecular findings and proposes a new classification of EDs integrating both molecular‐genetic data and corresponding clinical findings of related diseases.
Journal ArticleDOI
Ectodermal dysplasia: a genetic review.
Seema Deshmukh,S Prashanth +1 more
TL;DR: The history and lessons learned from hypohidrotic ectodermal dysplasia (HED) may serve as an example for unraveling of the cause and pathogenesis of other ectodmal Dysplasia syndromes by demonstrating that phenotypically identical syndrome can be caused by mutations in different genes.
Journal ArticleDOI
Enhanced Edar signalling has pleiotropic effects on craniofacial and cutaneous glands
TL;DR: Examination of changes in glandular structure caused by elevation of Edar signalling in a transgenic mouse model finds that sebaceous and Meibomian glands are enlarged and that salivary and mammary glands are more elaborately branched with increased Edar activity.