Concepedia

Hidrotic Ectodermal Dysplasia

Hidrotic Ectodermal Dysplasia is a rare autosomal dominant genodermatosis characterized by congenital hypotrichosis, nail dystrophy, palmoplantar keratoderma, and normal or increased sweating, distinguishing it from other ectodermal dysplasias by the presence of hydrotic (moist) skin features and mutations primarily in the GJB6 gene.

205

Publications

9.6K

Citations

827

Authors

314

Institutions

Publications per year

2017–2026

13

Variants

Clouston's Syndrome

Parents

Publications

205

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling

Rainer Döffinger, Asma Smahi, Christine Bessia et al. · Nature Genetics · 2001 · 819 citations

, , +13

X–linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

Juha Kere, Anand Srivastava, Outi Montonen et al. · Nature Genetics · 1996 · 756 citations

, , +13

A Novel X-Linked Disorder of Immune Deficiency and Hypohidrotic Ectodermal Dysplasia Is Allelic to Incontinentia Pigmenti and Due to Mutations in IKK-gamma (NEMO)

Jonathan Zonana, Melissa E. Elder, Lynda C. Schneider et al. · The American Journal of Human Genetics · 2000 · 523 citations · Full text

, , +15

Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia

Alex W. Monreal, Betsy Ferguson, Denis J. Headon et al. · Nature Genetics · 1999 · 406 citations

, , +12

Mutations in GJB6 cause hidrotic ectodermal dysplasia

Jérôme Lamartine, Guilherme Munhoz Essenfelder, Zoha Kibar et al. · Nature Genetics · 2000 · 288 citations

, , +10

1–5 of 205

Authors

827

  1. JZ
    Jonathan Zonana

    Oregon Health & Science University, United States

    8 publications · 2.3K citations

    8

    h-index

  2. HS
    Holm Schneider

    Friedrich-Alexander-Universität Erlangen-Nürnberg, Germany

    7 publications · 465 citations

    7

    h-index

  3. JZ
    J. Zonana

    Oregon Health & Science University, United States

    6 publications · 246 citations

    6

    h-index

  4. AC
    Angus Clarke

    Cardiff University, United Kingdom

    5 publications · 871 citations

    5

    h-index

  5. NS
    N S Thomas

    University of Wales, United Kingdom

    5 publications · 145 citations

    5

    h-index

1–5 of 827

Institutions

314

  1. Oregon Health & Science University

    Portland, United States

    12 h-index

    52 publications

    7.8K citations

  2. Inserm

    Paris, France

    8 h-index

    36 publications

    6.2K citations

  3. McGill University

    Montreal, Canada

    8 h-index

    20 publications

    1.1K citations

  4. Montreal Children's Hospital

    Montreal, Canada

    7 h-index

    10 publications

    787 citations

  5. University of Wales

    Cardiff, United Kingdom

    6 h-index

    18 publications

    2.6K citations

  6. Hôpital Necker-Enfants Malades

    Paris, France

    6 h-index

    24 publications

    9.6K citations

  7. Montreal General Hospital

    Montreal, Canada

    5 h-index

    13 publications

    973 citations

  8. Université Paris Cité

    Paris, France

    5 h-index

    25 publications

    1.2K citations

1–8 of 314

Venues

  1. PubMed

    Repository · 24 publications · 610 citations

    15

    h-index

  2. Archives of Dermatology

    12 publications · 399 citations

    11

    h-index

  3. American Journal of Medical Genetics

    9 publications · 209 citations

    9

    h-index

  4. British Journal of Dermatology

    7 publications · 196 citations

    7

    h-index

  5. Human Genetics

    7 publications · 178 citations

    7

    h-index

1–5