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Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study

Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_0150e33520264ab79bca69a84cac4ccc

Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study

About this item

Full title

Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study

Publisher

England: BioMed Central Ltd

Journal title

Orphanet journal of rare diseases, 2020-01, Vol.15 (1), p.7-7, Article 7

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

Scope and Contents

Contents

X-linked hypohidrotic ectodermal dysplasia (XLHED) is caused by pathogenic variants of the gene EDA disrupting the prenatal development of ectodermal derivatives. Cardinal symptoms are hypotrichosis, lack of teeth, and hypo- or anhidrosis, but the disease may also evoke other clinical problems. This study aimed at investigating the clinical course...

Alternative Titles

Full title

Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_0150e33520264ab79bca69a84cac4ccc

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_0150e33520264ab79bca69a84cac4ccc

Other Identifiers

ISSN

1750-1172

E-ISSN

1750-1172

DOI

10.1186/s13023-019-1288-x

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