A non-classical presentation of APECED in a family with heterozygous R203X AIRE gene mutation.

Radetti, G; Puel, A; Franceschi, R; Longhi, S; Gallo, N; Betterle, C

Radetti, G; Puel, A; Franceschi, R; Longhi, S; Gallo, N; Betterle, C.

Afiliación

Radetti G; Department of Pediatrics, Regional Hospital, Lorenz Böhler 5, 39100, Bolzano, Italy. giorgio.radetti@gmail.com.
Puel A; Laboratory of Human Genetics of Infectious Diseases, INSERM UMR 1163, University of Paris, Imagine Institute, Paris, France.
Franceschi R; Division of Paediatrics, S. Chiara General Hospital, Trento, Italy.
Longhi S; Department of Pediatrics, Regional Hospital, Lorenz Böhler 5, 39100, Bolzano, Italy.
Gallo N; Unit of Laboratory Medicine, Department of Medicine, University of Padua, Padua, Italy.
Betterle C; Endocrine Unit, Department of Medicine (DIMED), University of Padua, Padua, Italy.

J Endocrinol Invest ; 46(3): 629-632, 2023 Mar.

Article en En | MEDLINE | ID: mdl-36251243

Asunto(s)

Poliendocrinopatías Autoinmunes; Femenino; Humanos; Autoanticuerpos; Heterocigoto; Mutación; Poliendocrinopatías Autoinmunes/diagnóstico; Poliendocrinopatías Autoinmunes/genética; Proteína AIRE

Palabras clave

AIRE; APECED; Non-classical presentation; R203X

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Poliendocrinopatías Autoinmunes Límite: Female / Humans Idioma: En Revista: J Endocrinol Invest Año: 2023 Tipo del documento: Article País de afiliación: Italia

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