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Identification of recurrent mutations in the ARS (component B) gene encoding SLURP-1 in two families with mal de
Kimberley Morine Ward1, Ozlem Yerebakan, Ertan Yilmaz
1Department of Dermatology, Columbia University, New York, NY 10032, USA.
The Journal of Investigative Dermatology
|January 22, 2003
Abstract:
Mal de Meleda is a rare, autosomal recessive form of palmoplantar keratoderma. The disease has been mapped to chromosome 8qter, and in a recent study mutations in the ARS gene have been identified in families with this disorder. Here, we report two unrelated families with mal de Meleda, in which two different homozygous mutations in the ARS gene were identified. These findings support the notion that mutations in the ARS gene are pathogenic in mal de Meleda.