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Article

French-Canadian families from Saguenay-Lac-Saint-Jean: a new founder population for APECED.

Endocrine - 1 Jan 2022

Cruz Marino Tania, Villeneuve Hélène, Leblanc Josianne, Duranceau Caroline, Caron Philippe, Morin Charles, Milot Marcel, Chrétien Raphaëlle, Gagnon Maude-Marie, Mathieu Jean, Ellezam Benjamin, Buhas Daniela

Abstract excerpt

PURPOSE: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is more prevalent in some founder populations, but relatively unexplored in Canada. This study aimed at investigating the French-Canadian patients through phenotypic and genotypic characterization. METHOD: Phenotype and demographic characterization were done for 12 affected individuals belonging to eight unrelated families. Samples...

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PMID: 34846681
DOI: 10.1007/s12020-021-02826-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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