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pro vyhledávání: '"Nuria Matamoros M.D."'
Autor:
Daniel Hervás, Juan C. de Carlos, María Caimari, Antonio Rosell, Ana Martín-Santiago, Juan A. Hervás, Nuria Matamoros M.D.
Publikováno v:
Pediatric Dermatology. 30:e221-e222
We report a child with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome due to a de novo c.1190G>A (p.R397Q) mutation in exon 11 of the forkhead domain of the FOXP3 gene. He had chronic dermatitis with an eczematous and