X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families.

doi:10.1111/j.1399-0004.2008.01037.x

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Article

X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families.

Clinical genetics - 1 Sept 2008

Lexner M O, Bardow A, Juncker I, Jensen L G, Almer L, Kreiborg S, Hertz J M

Abstract excerpt

This study aimed to investigate genotype and phenotype in males affected with X-linked hypohidrotic ectodermal dysplasia (HED) and in female carriers, to analyse a possible genotype-phenotype correlation, and to analyse a possible relation between severity of the symptoms and the X-chromosome inactivation pattern in female carriers. The study group comprised 67 patients from 19 families (24 affected males and 43...

Topics

Anodontia
Chromosomes, Human, X
DNA Mutational Analysis
Denmark
Ectodermal Dysplasia 1, Anhidrotic
Exons
Female
Genotype
Humans
Male
Mutation
Phenotype
Tooth

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Open in PubMed

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PMID: 18510547
DOI: 10.1111/j.1399-0004.2008.01037.x

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