English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

Hypohidrotic ectodermal dysplasia (HED) is one of approximately 200 different genetic conditions of ectodermal dysplasia (ED) identified by the lack, or dysgenesis of, at least 2 ectodermal derivatives, such as hair, nails, teeth and sweat glands (1, 2). The hereditary model in most cases is X-linked (XLHED) caused by mutations localized in the gene encoding ectody splasinA (EDA) (1, 3, 4). Less commonly, HED caused by mutations localized in the ectodysplasin-A receptor (EDAR) or ectodysplasin-A receptor-associated adapter protein (EDARADD) gene with an autosomal dominant or autosomal recessive pattern of inheritance. XLHED (OMIM: 305100) is characterized by a triad of signs of hypohidrosis, hypotrichosis and hypodontia. This study enrolled a single Chinese family with XLHED with the rare phenotype of remarkable hyperplasia of the sebaceous glands and performed nextgeneration sequencing (NGS) to scan for potential mutations.

acta dermato-venereologica

Next-generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands