English
 
User Manual Privacy Policy Disclaimer Contact us
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT
 
 
DownloadE-Mail
  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.

Item is

Basic

show hide
Item Permalink: http://hdl.handle.net/11858/00-001M-0000-000E-F268-2 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-000E-F269-F
Genre: Journal Article

Files

show Files
hide Files
:
Haghighi.pdf (Correspondence), 201KB
Name:
Haghighi.pdf
Description:
-
Visibility:
Public
MIME-Type / Checksum:
application/pdf / [MD5]
Technical Metadata:
Copyright Date:
-
Copyright Info:
© 2012 British Association of Dermatologists
License:
-

Locators

show

Creators

show
hide
 Creators:
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              

Content

show
hide
Free keywords: -
 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) .

Details

show
hide
Language(s):
 Dates: 2012-12-04
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: Peer
 Identifiers: DOI: 10.1111/bjd.12151
 Degree: -

Event

show

Legal Case

show

Project information

show

Source 1

show
hide
Title: British Journal of Dermatology
  Other : Br. J. Dermatol.
Source Genre: Journal
 Creator(s):
Affiliations:
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: /journals/resource/110978978380151