临床病理学挑战:五名男性呈现逐渐变厚的皮肤和的声音

R Maxwell Regester1, Molly Antonson1, Nicole N Harter1,2

  • 1Department of Dermatology, University of Nebraska Medical Center, Omaha, Nebraska, USA.

概括

这项研究确定了五名患有脂质蛋白质症 (LP) 的男性患者的同卵性ECM1突变,这是一种罕见的遗传性皮肤疾病. 早期皮肤学识别对于诊断这种遗传性疾病和管理系统性影响至关重要.

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