A novel mutation of the autoimmune regulator gene in an Italian kindred with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, acting in a dominant fashion and strongly cosegregating with hypothyroid autoimmune thyroiditis

Journal of Clinical Endocrinology and Metabolism

Volumn 86, Issue 10, 2001, Pages 4747-4752

  Cetani, Filomena ^a   Barbesino, Giuseppe ^a   Borsari, Simona ^a   Pardi, Elena ^a   Cianferotti, Luisella ^a   Pinchera, Aldo ^a   Marcocci, Claudio ^a  

^a UNIVERSITY OF PISA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

PARATHYROID HORMONE;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOIMMUNE DISEASE; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; AUTOSOMAL RECESSIVE DISORDER; CANDIDIASIS; CLINICAL ARTICLE; FEMALE; HUMAN; HYPOPARATHYROIDISM; HYPOTHYROIDISM; ITALY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL; SKIN DISEASE; SYNDROME; THYROIDITIS;

EID: 0034749749     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.86.10.7884     Document Type: Article

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