Article
Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins.
Molecular endocrinology (Baltimore, Md.) - 1 Aug 1998
Scott H S, Heino M, Peterson P, Mittaz L, Lalioti M D, Betterle C, Cohen A, Seri M, Lerone M, Romeo G, Collin P, Salo M, Metcalfe R, Weetman A, Papasavvas M P, Rossier C, Nagamine K, Kudoh J, Shimizu N, Krohn K J, Antonarakis S E
Abstract excerpt
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED; OMIM *240300, also called APS 1,) is a rare autosomal recessive disorder that is more frequent in certain isolated populations. It is generally characterized by two of the three major clinical symptoms that may be present, Addison's disease and/or hypoparathyroidism and/or chronic mucocutaneous candidiasis. Patients may also have a number of...
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