Search Results - "de Carlos, Juan C"

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    Diagnostic Value of the Skin Lesions in Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome by Martín-Santiago, Ana, Hervás, Juan A., Hervás, Daniel, Rosell, Antonio, Caimari, María, de Carlos, Juan C., Matamoros, Nuria

    Published in Pediatric dermatology (01-11-2013)
    “…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…”
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