Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy: Report of Seven Additional Sicilian Patients and Overview of the Overall Series from Sicily

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 reg...

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Veröffentlicht in:	Hormone research in paediatrics 2014-01, Vol.82 (2), p.127-132
Hauptverfasser:	Valenzise, Mariella, Fierabracci, Alessandra, Cappa, Marco, Porcelli, Paolo, Barcellona, Roberto, De Luca, Filippo, Barollo, Susi, Garelli, Silvia, Betterle, Corrado
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult AIRE Protein Child Child, Preschool Female Genotype Humans Infant Male Original Paper Polyendocrinopathies, Autoimmune - epidemiology Polyendocrinopathies, Autoimmune - genetics Polyendocrinopathies, Autoimmune - pathology Sicily - epidemiology Transcription Factors - genetics
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