Article
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: report of seven additional sicilian patients and overview of the overall series from sicily.
Hormone research in paediatrics - 1 Jan 2014
Valenzise Mariella, Fierabracci Alessandra, Cappa Marco, Porcelli Paolo, Barcellona Roberto, De Luca Filippo, Barollo Susi, Garelli Silvia, Betterle Corrado
Abstract excerpt
BACKGROUND: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare recessive inherited disease caused by the mutation of the AIRE gene on chromosome 21. To date, 8 Sicilian patients have been described and the R203X AIRE mutation was found to be the most common in this region. AIMS: (1) To describe 7 additional Sicilian APECED patients and to review all 15 Sicilian APECED patients who...
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