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LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature.
Kalev, Ingrid; Muru, Kai; Teek, Rita; Zordania, Riina; Reimand, Tiia; Köbas, Kristel; Ounap, Katrin.
Affiliation
  • Kalev I; Department of Human Biology and Genetics, Institute of General and Molecular Pathology, University of Tartu, Tartu, Estonia. ingrid.kalev@ut.ee
Eur J Pediatr ; 169(4): 469-73, 2010 Apr.
Article in En | MEDLINE | ID: mdl-19768645
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Full text: 1 Database: MEDLINE Main subject: Skin Diseases / Point Mutation / LEOPARD Syndrome / Protein Tyrosine Phosphatase, Non-Receptor Type 11 Type of study: Diagnostic_studies Limits: Child, preschool / Female / Humans / Male Language: En Year: 2010 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Skin Diseases / Point Mutation / LEOPARD Syndrome / Protein Tyrosine Phosphatase, Non-Receptor Type 11 Type of study: Diagnostic_studies Limits: Child, preschool / Female / Humans / Male Language: En Year: 2010 Type: Article