Article
SLURP-1 is mutated in Mal de Meleda, a potential molecular signature for melanoma and a putative squamous lineage tumor suppressor gene.
International journal of dermatology - 1 Feb 2018
Bergqvist Christina, Kadara Humam, Hamie Lamiaa, Nemer Georges, Safi Remi, Karouni Mirna, Marrouche Nadine, Abbas Ossama, Hasbani Divina J, Kibbi Abdul G, Nassar Dany, Shimomura Yutaka, Kurban Mazen
Abstract excerpt
BACKGROUND: Mal de Meleda (MDM) is a rare inherited autosomal recessive genodermatosis characterized by palmoplantar keratoderma (PPK) with transgrediens and caused by mutations in the SLURP1 gene. Uncommonly, cutaneous tumors have been found at PPK sites in MDM patients. OBJECTIVE: To study a Middle Eastern family with MDM with both PPK and skin tumors. METHODS: We studied a Middle Eastern (Palestinian) family...
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