The first Mal de Meleda case in Libya: identification of a SLURP1 mutation-Reference-Cited by-同舟云学术

The first Mal de Meleda case in Libya: identification of a SLURP1 mutation

Published:2014-04-16 Issue:12 Volume:54 Page:1426-1428
ISSN:0011-9059
Container-title:International Journal of Dermatology
language:en
Short-container-title:Int J Dermatol

Author:

Bchetnia Mbarka¹,Bozgia Mariam²,Laroussi Nadia¹,Ben Brick Ahlem Sabrine¹,Charfeddine Cherine¹,Ben Halim Nizar¹,Mokni Mourad³⁴,Boubaker Mohamed Samir¹⁵,Abdelhak Sonia¹

Affiliation:

1. Laboratoire de Génomique Biomédicale et Oncogénétique (LR11IPT05); Institut Pasteur de Tunis; Université de Tunis El Manar; Tunis Tunisia

2. Département de Dermatologie; Hôpital de Ben Ghazi; Ben Ghazi Libya

3. Département de Dermatologie; Hôpital La Rabta; Tunis Tunisia

4. Unité de recherche “Troubles héréditaires de la kératinisation, UR24/04”; Hôpital La Rabta de Tunis; Tunis Tunisia

5. Laboratoire d'anatomie pathologique humaine et expérimentale; Institut Pasteur de Tunis; Tunis Tunisia

Funder

Tunisian Ministry of Public Health and the Ministry of Higher Education and Scientific Research

Publisher

Wiley

Subject

Dermatology

Reference16 articles.

1. Identification of recurrent mutations in the ARS (component B) gene encoding SLURP-1 in two families with mal de Meleda;Ward;J Invest Dermatol,2003

2. Meleda expedition 1968;Schnyder;Hautarzt,1969

3. Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates;Eckl;Hum Genet,2003

4. Mutations in the gene encoding SLURP-1 in Mel de Meleda;Fischer;Hum Mol Genet,2001

5. Identification of SLURP-1 as an epidermal neuromodulator explains the clinical phenotype of Mal de Meleda;Chimienti;Hum Mol Genet,2003

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1. Abnormal keratinization and cutaneous inflammation in Mal de Meleda;The Journal of Dermatology;2020-03-10

2. Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma;Acta Dermato Venereologica;2020

3. The Genetic Epidemiology of Orphan Diseases in North Africa;The Genetics of African Populations in Health and Disease;2019-12-19

4. Identification of novel homozygous SLURP1 mutation in a Javanese family with Mal de Meleda;International Journal of Dermatology;2017-10-11

5. Knowledge, perception, and practice of patients about pityriasis versicolor in Kaduna, North Central Nigeria;International Journal of Dermatology;2017-05-31