Literature DB >> 11872406

Mal de Meleda without mutations in the ARS coding sequence.

Maurice A M van Steensel1, Michel Van van Geel, Peter M Steijlen.   

Abstract

Mal de Meleda (Mal de Mljet) is a recessive palmoplantar hyperkeratosis associated with hyperhidrosis, brachydactyly and sometimes pseudo-ainhum. It was recently discovered to be caused by mutations in the ARS gene on chromosome 8. Here we report a patient suffering from Mal de Meleda not associated with ARS mutations. The related E48 and GML genes were also excluded.

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Year:  2002        PMID： 11872406

Source DB:  PubMed          Journal:  Eur J Dermatol        ISSN： 1167-1122            Impact factor:   3.328


  2 in total

1.  Further evidence of the clinical and genetic heterogeneity of recessive transgressive PPK in the Mediterranean region.

Authors:  Cherine Charfeddine; Mourad Mokni; Selma Kassar; Hela Zribi; Chiraz Bouchlaka; Samir Boubaker; Ahmed Rebai; Amel Ben Osman; Sonia Abdelhak
Journal:  J Hum Genet       Date:  2006-07-25       Impact factor: 3.172

2.  Palmoplantar Keratoderma in Slurp2-Deficient Mice.

Authors:  Christopher M Allan; Shiri Procaccia; Deanna Tran; Yiping Tu; Richard H Barnes; Mikael Larsson; Bernard B Allan; Lorraine C Young; Cynthia Hong; Peter Tontonoz; Loren G Fong; Stephen G Young; Anne P Beigneux
Journal:  J Invest Dermatol       Date:  2015-11-18       Impact factor: 8.551
  2 in total

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