Pili torti et canaliculi and agenesis of the teeth: report of a new “pure” hair-tooth ectodermal dysplasia in a Norwegian family

The hair samples were fixed onto probe with double sided sticky tape, coated with a 30 nm layer of gold/palladium alloy in a Polaron E 5100 Sputter Coater (Polaron Equipment Ltd, Watford, UK), and the specimens were then examined and photographed in a Philips SEM 515 microscope (Philips, Eindhoven,...

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Bibliographic Details
Published in:Journal of medical genetics 2000-09, Vol.37 (9), p.721-723
Main Author: SELVAAG, EDGAR
Format: Article
Language:English
Subjects:
Baldness
Defects
Ectodermal Dysplasia - genetics
Ectodermal Dysplasia - pathology
Family Health
Female
Hair
Hair - pathology
Hair - ultrastructure
Hair Diseases - genetics
Hair Diseases - pathology
Humans
Inheritances
Letters to the Editor
Male
Microscopy, Electron, Scanning
Molar - abnormalities
Norway
Pedigree
Scanning electron microscopy
Teeth
Tooth Abnormalities - genetics
Tooth Abnormalities - pathology
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Description
Summary:The hair samples were fixed onto probe with double sided sticky tape, coated with a 30 nm layer of gold/palladium alloy in a Polaron E 5100 Sputter Coater (Polaron Equipment Ltd, Watford, UK), and the specimens were then examined and photographed in a Philips SEM 515 microscope (Philips, Eindhoven, The Netherlands). [...]the combination of pili torti et canaliculi and dental abnormalities has not been described before and could represent a new pure hair-tooth ectodermal dysplasia.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.37.9.721