Molecular and clinical characterization of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) in Iranian non-Jewish patients: report of two novel AIRE gene pathogenic variants.
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| Title: | Molecular and clinical characterization of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) in Iranian non-Jewish patients: report of two novel AIRE gene pathogenic variants. |
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| Authors: | Setoodeh A; Division of Endocrinology and Metabolism, Growth and Development Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Panjeh-Shahi S; Cellular and Molecular Biology Research Center, Health Research Institute, Babol University of Medical Sciences, Babol, Iran., Bahmani F; Division of Endocrinology and Metabolism, Growth and Development Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Vand-Rajabpour F; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran., Jalilian N; Department of Clinical Biochemistry, School of Medicine, Kermanshah University of Medical Sciences, Kermanshah, Iran., Sayarifard F; Division of Endocrinology and Metabolism, Growth and Development Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Abbasi F; Division of Endocrinology and Metabolism, Growth and Development Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Sayarifard A; Growth and Development Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Rostami P; Division of Endocrinology and Metabolism, Growth and Development Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Parvaneh N; Division of Allergy and Clinical Immunology, Department of Pediatrics, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Akhavan-Niaki H; Department of Medical Genetics, Faculty of Medicine, Babol University of Medical Sciences, Babol, Iran., Ahmadifard M; Department of Medical Genetics, Faculty of Medicine, Babol University of Medical Sciences, Babol, Iran., Tabrizi M; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. tabrizi@tums.ac.ir. |
| Source: | Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Jan 06; Vol. 17 (1), pp. 10. Date of Electronic Publication: 2022 Jan 06. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1750-1172 |
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| DOI: | 10.1186/s13023-021-02170-z |
