Two siblings presented with straw‐colored, frizzy, and wiry hair. They had no associated abnormalities and no family history of abnormal hair. Trichoscopy showed the longitudinal groove in the hair shafts, characteristic of uncombable hair syndrome. Molecular genetic analysis revealed a new pathogenic variant (c.1374dup; p. Val459ArgfsTer15) in PADI3, not previously described.

中文翻译：

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患有不可梳理头发综合征的两兄弟姐妹：一种新的致病变异

两兄妹的头发呈稻草色、卷曲、硬挺。他们没有相关的异常，也没有头发异常的家族史。毛发镜检查显示毛干中有纵向凹槽，这是不可梳理头发综合征的特征。分子遗传学分析揭示了一种新的致病变异（c.1374dup；p.Val459ArgfsTer15）PADI3，之前没有描述过。