Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy presenting with severe keratopathy in an egyptian patient with a homozygous R139X mutation

Hormone Research

Volumn 64, Issue 2, 2005, Pages 96-99

  Tawfik, Sameh ^a   Azim, Mohammed Abd ^b   Peterson, Part ^c   Donaldson, Malcolm D C ^d,e  

^a Maadi Armed Forces Hospital   (Egypt)

^b Kobri Al Kobba Hospital   (Egypt)

^c TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

^d UNIVERSITY OF GLASGOW   (United Kingdom)

^e ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

Author keywords

Addison's disease; Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy; Hypoparathyroidism; Keratopathy; Mucocutaneous candidiasis

Indexed keywords

FLUOROMETHOLONE; PROMETHAZINE; RETINOL;

ADDISON DISEASE; ADOLESCENT; ARTICLE; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; CASE REPORT; CLINICAL FEATURE; CORNEA OPACITY; GENE MUTATION; HUMAN; MALE; PHOTOPHOBIA; PRIORITY JOURNAL; VISUAL ACUITY;

ADULT; EXONS; EYE; EYE DISEASES; HOMOZYGOTE; HUMANS; MALE; MUTATION; POLYENDOCRINOPATHIES, AUTOIMMUNE; TRANSCRIPTION FACTORS;

EID: 26444555981     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000088307     Document Type: Article

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