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Endocrinology and Metabolism Clinics of North America, 2002-06, Vol.31 (2), p.295-320
Ort / Verlag
United States: Elsevier Inc
Erscheinungsjahr
2002
Quelle
MEDLINE
Beschreibungen/Notizen
The clinical picture and course of APS-I or APD-I/APECED is widely variable: the list of possible disease components includes some 30 disorders. The initial manifestation may not include any of the known characteristic components, namely, mucocutaneous candidiasis, hypoparathyroidism, or adrenocortical insufficiency. Although mutation detection is available, it does not help to exclude this disease. Diagnostic strategy needs to be based on knowledge of the clinical picture, including the features of ectodermal dystrophy.