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  Identification of a Novel Missense Mutation in EDAR Causing Autosomal Recessive Hypohidrotic Ectodermal Dysplasia with Bilateral Amastia and Palmoplantar Hyperkeratosis

Haghighi, A., Nikuei, P., Haghighi-Kakhki, H., N, H.-S.-G., Baghestani, S., Krawitz, P. M., et al. (2012). Identification of a Novel Missense Mutation in EDAR Causing Autosomal Recessive Hypohidrotic Ectodermal Dysplasia with Bilateral Amastia and Palmoplantar Hyperkeratosis. British Journal of Dermatology, 2012, e-e. doi:10.1111/bjd.12151.

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© 2012 British Association of Dermatologists
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Haghighi, A., Author
Nikuei, P., Author
Haghighi-Kakhki, H., Author
N, H. Saleh-Gohari, Author
Baghestani, S., Author
Krawitz, P. M., Author
Hecht, J.1, 2, Author           
Mundlos, S.1, 2, 3, Author           
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, Berlin, Germany, ou_1433557              
2Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité Universitätsmedizin Berlin, Berlin, Germany, ou_persistent22              
3Institut für Medizinische Genetik und Humangenetik, Charité Universitätsmedizin Berlin, Berlin, Germany, ou_persistent22              

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 Abstract: Ectodermal dysplasias (EDs) are a large group of heritable complex conditions with more than 200 members and common clinical characteristics of anomalies of the hair, teeth, nails, and sweat glands with or without involvement of other organs (1) . Anhidrotic or hypohidrotic ectodermal dysplasia (EDA/ HED) is the most common form of EDs which is characterized by the clinical triad of hypotrichosis (sparse hair), abnormal or missing teeth (anodontia or hypodontia), and deficient sweating (hypohidrosis or anhidrosis) (2) . Different modes of inheritance have been described for HED. X-linked HED (OMIM: 305100) is caused by mutations in ectodysplasin A gene (EDA1), whereas mutations in the EDA receptor (EDAR) and EDAR-associated death domain (EDARADD) genes result in autosomal dominant (OMIM:129490) and autosomal recessive (OMIM: 224900) forms (3) .

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 Dates: 2012-12-04
 Publication Status: Issued
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 Rev. Type: Peer
 Identifiers: DOI: 10.1111/bjd.12151
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Title: British Journal of Dermatology
  Other : Br. J. Dermatol.
Source Genre: Journal
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Publ. Info: Oxford [etc.] : Published for the British Association of Dermatologists by Blackwell Scientific Publications [etc.]
Pages: - Volume / Issue: 2012 Sequence Number: - Start / End Page: e - e Identifier: ISSN: 0007-0963
CoNE: https://pure.mpg.de/cone/journals/resource/110978978380151