Abstract:this dispute, we performed a comprehensive literature review.We found 146 reported cases of NSML (Table S1). All had systemic symptoms and 143 patients (98%) had the typical cutaneous features, of whom only 8 patients (6%) displayed cutaneous features at disease presentation. We went through the medical history of these eight patients and found that two also carried the Thr468Met missense mutation; both had multiple lentigines at birth and developed systemic symptoms at the ages of 2 and 49 years, respectively… Show more
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