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Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator gene (AIRE). Terminal 4q deletion is also a rare cytogenetic abnormality that causes a variable syndrome of dysmorphic features, mental retar...
Autores principales: | Al-Owain, Mohammed, Kaya, Namik, Al-Zaidan, Hamad, Bin Hussain, Ibrahim, Al-Manea, Hadeel, Al-Hindi, Hindi, Kennedy, Shelley, Iqbal, M. Anwar, Al-Mojalli, Hamad, Al-Bakheet, Albandary, Puel, Anne, Casanova, Jean-Laurent, Al-Muhsen, Saleh |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2010
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3010696/ https://www.ncbi.nlm.nih.gov/pubmed/21197407 http://dx.doi.org/10.1155/2010/586342 |
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