Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms.

doi:10.1002/ajmg.a.32804

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Article

Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms.

American journal of medical genetics. Part A - 1 Sept 2009

Priolo Manuela

Abstract excerpt

The ectodermal dysplasias (EDs) are a large and complex group of disorders. In various combinations, they all share anomalies in hair, teeth, nails, and sweat gland function. The anomalies affecting the epidermis and epidermal appendages are extremely variable. Many are associated with malformations in other organs and systems. Clinical overlap is present among EDs. Few causative genes have been identified, to...

Topics

Cell Differentiation
Ectodermal Dysplasia
Epidermal Cells
Epidermis
Genes
Genotype
Humans
Mutation
Phenotype
Proteins

Source

Open in PubMed

Identifiers

PMID: 19504607
DOI: 10.1002/ajmg.a.32804

Provenance

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